Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.
Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.
A subgroup of TRP cation channels that are widely expressed in various cell types. Defects are associated with POLYCYSTIC KIDNEY DISEASES.
A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.
Pathological processes of the KIDNEY or its component tissues.
Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues.
Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed)
A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).
The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.
Long convoluted tubules in the nephrons. They collect filtrate from blood passing through the KIDNEY GLOMERULUS and process this filtrate into URINE. Each renal tubule consists of a BOWMAN CAPSULE; PROXIMAL KIDNEY TUBULE; LOOP OF HENLE; DISTAL KIDNEY TUBULE; and KIDNEY COLLECTING DUCT leading to the central cavity of the kidney (KIDNEY PELVIS) that connects to the URETER.
Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. It is considered to be equivalent to INULIN clearance.
Liquid material found in epithelial-lined closed cavities or sacs.
Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)
Pathological processes of the LIVER.
Rats bearing mutant genes which are phenotypically expressed in the animals.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine.
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
The transference of a kidney from one human or animal to another.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Straight tubes commencing in the radiate part of the kidney cortex where they receive the curved ends of the distal convoluted tubules. In the medulla the collecting tubules of each pyramid converge to join a central tube (duct of Bellini) which opens on the summit of the papilla.
Specific molecular sites or proteins on or in cells to which VASOPRESSINS bind or interact in order to modify the function of the cells. Two types of vasopressin receptor exist, the V1 receptor in the vascular smooth muscle and the V2 receptor in the kidneys. The V1 receptor can be subdivided into V1a and V1b (formerly V3) receptors.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The presence of proteins in the urine, an indicator of KIDNEY DISEASES.
Persistent high BLOOD PRESSURE due to KIDNEY DISEASES, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete RENIN.
Creatinine is a waste product that's generated from muscle metabolism, typically filtered through the kidneys and released in urine, with increased levels in blood indicating impaired kidney function.
A contrast medium in diagnostic radiology with properties similar to those of diatrizoic acid. It is used primarily as its sodium and meglumine (IOTHALAMATE MEGLUMINE) salts.
Presence of blood in the urine.
A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION.
Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.
The measurement of an organ in volume, mass, or heaviness.
Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
Placement of one of the surgeon's gloved hands into the ABDOMINAL CAVITY to perform manual manipulations that facilitate the laparoscopic procedures.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)
The outer zone of the KIDNEY, beneath the capsule, consisting of KIDNEY GLOMERULUS; KIDNEY TUBULES, DISTAL; and KIDNEY TUBULES, PROXIMAL.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.
Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, PERITONEAL DIALYSIS, and HEMODIAFILTRATION.
A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions.
The functional units of the kidney, consisting of the glomerulus and the attached tubule.
The renal tubule portion that extends from the BOWMAN CAPSULE in the KIDNEY CORTEX into the KIDNEY MEDULLA. The proximal tubule consists of a convoluted proximal segment in the cortex, and a distal straight segment descending into the medulla where it forms the U-shaped LOOP OF HENLE.
Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE.
A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth.
Excision of kidney.
Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE.
Mice bearing mutant genes which are phenotypically expressed in the animals.
A serine threonine kinase that controls a wide range of growth-related cellular processes. The protein is referred to as the target of RAPAMYCIN due to the discovery that SIROLIMUS (commonly known as rapamycin) forms an inhibitory complex with TACROLIMUS BINDING PROTEIN 1A that blocks the action of its enzymatic activity.
Cell surface proteins that bind signalling molecules external to the cell with high affinity and convert this extracellular event into one or more intracellular signals that alter the behavior of the target cell (From Alberts, Molecular Biology of the Cell, 2nd ed, pp693-5). Cell surface receptors, unlike enzymes, do not chemically alter their ligands.
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
'Poisonous fishes' are aquatic organisms belonging to the Phylum Chordata and Class Pisces, that contain toxic substances either in their tissues or secretions, which can cause harmful or lethal effects when ingested, touched, or coming into contact with their released toxins.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
The presence of albumin in the urine, an indicator of KIDNEY DISEASES.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
A cluster of convoluted capillaries beginning at each nephric tubule in the kidney and held together by connective tissue.
A powder that dissolves in water, which is administered orally, and is used as a diuretic, expectorant, systemic alkalizer, and electrolyte replenisher.
A glycosyl-phosphatidyl-inositol (GPI) - anchored membrane protein found on the thick ascending limb of the LOOP OF HENLE. The cleaved form of the protein is found abundantly in URINE.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
All of the processes involved in increasing CELL NUMBER including CELL DIVISION.
The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
Abnormally infrequent menstruation.
Established cell cultures that have the potential to propagate indefinitely.
Tumors or cancers of the KIDNEY.
Compounds with BENZENE fused to AZEPINES.
Elements of limited time intervals, contributing to particular results or situations.
Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
Biochemical identification of mutational changes in a nucleotide sequence.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
Orientation of intracellular structures especially with respect to the apical and basolateral domains of the plasma membrane. Polarized cells must direct proteins from the Golgi apparatus to the appropriate domain since tight junctions prevent proteins from diffusing between the two domains.
An individual having different alleles at one or more loci regarding a specific character.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A BLOOD PRESSURE regulating system of interacting components that include RENIN; ANGIOTENSINOGEN; ANGIOTENSIN CONVERTING ENZYME; ANGIOTENSIN I; ANGIOTENSIN II; and angiotensinase. Renin, an enzyme produced in the kidney, acts on angiotensinogen, an alpha-2 globulin produced by the liver, forming ANGIOTENSIN I. Angiotensin-converting enzyme, contained in the lung, acts on angiotensin I in the plasma converting it to ANGIOTENSIN II, an extremely powerful vasoconstrictor. Angiotensin II causes contraction of the arteriolar and renal VASCULAR SMOOTH MUSCLE, leading to retention of salt and water in the KIDNEY and increased arterial blood pressure. In addition, angiotensin II stimulates the release of ALDOSTERONE from the ADRENAL CORTEX, which in turn also increases salt and water retention in the kidney. Angiotensin-converting enzyme also breaks down BRADYKININ, a powerful vasodilator and component of the KALLIKREIN-KININ SYSTEM.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
One or more layers of EPITHELIAL CELLS, supported by the basal lamina, which covers the inner or outer surfaces of the body.
The channels that collect and transport the bile secretion from the BILE CANALICULI, the smallest branch of the BILIARY TRACT in the LIVER, through the bile ductules, the bile ducts out the liver, and to the GALLBLADDER for storage.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
The urea concentration of the blood stated in terms of nitrogen content. Serum (plasma) urea nitrogen is approximately 12% higher than blood urea nitrogen concentration because of the greater protein content of red blood cells. Increases in blood or serum urea nitrogen are referred to as azotemia and may have prerenal, renal, or postrenal causes. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)
A strain of albino rat used widely for experimental purposes because of its calmness and ease of handling. It was developed by the Sprague-Dawley Animal Company.
Genes that influence the PHENOTYPE only in the homozygous state.
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
Suspension or cessation of OVULATION in animals or humans with follicle-containing ovaries (OVARIAN FOLLICLE). Depending on the etiology, OVULATION may be induced with appropriate therapy.
The amount of the RENAL BLOOD FLOW that is going to the functional renal tissue, i.e., parts of the KIDNEY that are involved in production of URINE.
Liquid components of living organisms.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
An enzyme that catalyzes the active transport system of sodium and potassium ions across the cell wall. Sodium and potassium ions are closely coupled with membrane ATPase which undergoes phosphorylation and dephosphorylation, thereby providing energy for transport of these ions against concentration gradients.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
A macrolide compound obtained from Streptomyces hygroscopicus that acts by selectively blocking the transcriptional activation of cytokines thereby inhibiting cytokine production. It is bioactive only when bound to IMMUNOPHILINS. Sirolimus is a potent immunosuppressant and possesses both antifungal and antineoplastic properties.
A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
Any method used for determining the location of and relative distances between genes on a chromosome.
The circulation of the BLOOD through the vessels of the KIDNEY.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A biguanide hypoglycemic agent used in the treatment of non-insulin-dependent diabetes mellitus not responding to dietary modification. Metformin improves glycemic control by improving insulin sensitivity and decreasing intestinal absorption of glucose. (From Martindale, The Extra Pharmacopoeia, 30th ed, p289)
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
An angiotensin-converting enzyme inhibitor that is used to treat HYPERTENSION and HEART FAILURE.
An adenine nucleotide containing one phosphate group which is esterified to both the 3'- and 5'-positions of the sugar moiety. It is a second messenger and a key intracellular regulator, functioning as a mediator of activity for a number of hormones, including epinephrine, glucagon, and ACTH.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz.
Drugs used in the treatment of acute or chronic vascular HYPERTENSION regardless of pharmacological mechanism. Among the antihypertensive agents are DIURETICS; (especially DIURETICS, THIAZIDE); ADRENERGIC BETA-ANTAGONISTS; ADRENERGIC ALPHA-ANTAGONISTS; ANGIOTENSIN-CONVERTING ENZYME INHIBITORS; CALCIUM CHANNEL BLOCKERS; GANGLIONIC BLOCKERS; and VASODILATOR AGENTS.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)
A true cyst of the PANCREAS, distinguished from the much more common PANCREATIC PSEUDOCYST by possessing a lining of mucous EPITHELIUM. Pancreatic cysts are categorized as congenital, retention, neoplastic, parasitic, enterogenous, or dermoid. Congenital cysts occur more frequently as solitary cysts but may be multiple. Retention cysts are gross enlargements of PANCREATIC DUCTS secondary to ductal obstruction. (From Bockus Gastroenterology, 4th ed, p4145)
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
Antidiuretic hormones released by the NEUROHYPOPHYSIS of all vertebrates (structure varies with species) to regulate water balance and OSMOLARITY. In general, vasopressin is a nonapeptide consisting of a six-amino-acid ring with a cysteine 1 to cysteine 6 disulfide bridge or an octapeptide containing a CYSTINE. All mammals have arginine vasopressin except the pig with a lysine at position 8. Vasopressin, a vasoconstrictor, acts on the KIDNEY COLLECTING DUCTS to increase water reabsorption, increase blood volume and blood pressure.

Perinatal nephropathies. (1/572)

The purpose of this paper is to review the development of the mammalian kidney and to assess the influence that various perinatal manipulations may have on the developmental process either morphologically or functionally. Immature kidneys in general have less functional capacity than adult kidneys and a low rate of glomerular filtration, perhaps related to renal blood flow, which appears to limit the disposition of a fluid or solute load. Tubular reabsorption is also limited leading to the urinary loss of glucose, amino acids, bicarbonate and phosphate. Although the relatively low function of the immature kidney is a normal part of development, its capacity to respond under conditions of stress may be less adequate than in adults. An additional concern is that a variety of perinatal manipulations, such as the incidental or accidental ingestion of a chemical, may lead to varying degrees of altered morphogenesis or functional development of the kidney. Chemical induced renal anomalies may be of several types, but in typical teratology experiments hydronephrosis may be the most frequent observation. The functional consequences of these renal malformations may be lethal or inconsequential or while an animal may be able to survive and develop normally in the presence of a renal malformation, it is possible that a stressful situation would unmask a functional malformation which could compromise survival. Thus, some renal abnormalities may be subtle enough to go unnoticed without experimental tests. Without such tests it is impossible to evaluate the effect of functional alterations on successful adaptation.  (+info)

The spouse as a kidney donor: ethically sound? (2/572)

A shortage of cadaver donor organs requires transplant units to examine all possible alternatives. Transplantation from living donors accounts for only approximately 10% of kidney transplants in the UK. Recent studies have shown that the results of kidney transplantation between spouses are at least as good as those of well-matched cadaver organs, but very few transplants of this type have been performed in this country so far. As part of the assessment process, the proposed donor and recipient are required to provide written statements about the issues. We reproduce here the personal statements made by one of our patients and his wife: we believe that the statements support our contention that spousal transplantation is ethically justifiable and should be more widely available. We report our early experience in Bristol with seven kidney transplants from spousal donors and we encourage other renal units in this country and elsewhere to consider this method of improving the prospects of kidney transplantation for their patients.  (+info)

Incidence of analgesic nephropathy in Berlin since 1983. (3/572)

BACKGROUND: Phenacetin was removed from the German market in 1986 and was replaced mainly in analgesic compounds by acetaminophen. Our objective was to examine the effect of this measure on the incidence of analgesic nephropathy in light of the changes in other end-stage renal diseases. METHODS: We therefore compared the proportion of renal diseases in all patients starting dialysis treatment during three 18-month periods: 4/1982-9/1983 (n=57); 1/1991-6/1992 (n=81); and 10/1995-3/1997 (n=76). RESULTS: On the one hand, the proportion of end-stage analgesic nephropathy decreased significantly from 30% in 1981-1982 to 21% in 1991-1992 and 12% in 1995-1997 (P=0.01). On the other hand, type II diabetes increased significantly from 7% to 22% (P=0.01) and 29%, (P=0.001). Using the chi2 distribution test to analyze the frequencies of seven diseases at three different time intervals, however, showed that the changes in renal-disease proportions between 1982-1983, 1991-1992 and 1995-1997 were not significantly independent. There was a significant median age increase from 52 years (CI0.95 44-58) in 1982-1983 to 63 (CI0.95 55-67) in 1991-1992 and 63 (CI0.95 60-66) in 1995-1997 (P=0.003) for all patients starting dialysis but not for those with analgesic nephropathy [59 (55-71) vs 64 (53-67) and 61 (50-72); n.s.]. CONCLUSION: The decrease of end-stage analgesic nephropathy since 1983 may be partially due to the removal of phenacetin from the German market in 1986. However, considering the general increase in numbers of dialysis patients, their higher age and the increased incidence of type II diabetes, the decrease in analgesic nephropathy is not a statistically significant independent variable. Altered admittance policies for dialysis treatment have yielded a new pattern of renal-disease proportion which interferes with changes in the incidence of analgesic nephropathy.  (+info)

Gene therapy for renal anemia in mice with polycystic kidney using an adenovirus vector encoding the human erythropoietin gene. (4/572)

BACKGROUND: Recombinant human erythropoietin (rHuEPO) is primarily used for patients with anemia associated with end-stage renal disease. We evaluated the efficacy of EPO gene therapy using adenovirus vector for chronic renal failure mice expressing severe renal anemia. METHODS: Recombinant HuEPO gene transfer to mesothelial cells was performed in vitro and in vivo. Recombinant replication-deficient adenoviruses containing rHuEPO cDNA (AdCMVEPO), E. coli lacZ gene (AdCMVlacZ), or an nonexogenous gene (AdNull as control vector) driven by the cytomegalovirus promotor/enhancer were constructed. The oligosaccharides associated with the rHuEPO from AdCMVEPO-treated mesothelial cells were analyzed. For in vivo study, the DBA/2FG-pcy mouse, a model for human autosomal recessive polycystic kidney disease resulting in chronic renal failure with progressive anemia, was used. RESULTS: The sialylated oligosaccharides associated with the rHuEPO produced in AdCMVEPO-treated mesothelial cells occupied 78 +/- 0.7% of the total oligosaccharide pool. A single intraperitoneal administration of AdCMVEPO induced rHuEPO synthesis in the peritoneal cells and a marked increase in erythrocyte production. The maximal increase in hematocrit (43 +/- 4%) was observed on day 28, and it remained elevated for 40 days. CONCLUSION: These results indicate that intraperitoneal administration of AdCMVEPO improves renal anemia in mice with chronic renal failure and that the mesothelial cell is an appropriate target cell for gene transfer.  (+info)

Abnormal prenatal sonographic findings in the posterior cranial fossa: a case of Joubert's syndrome. (5/572)

Joubert's syndrome is a well-documented but rare disorder characterized by a variable combination of central nervous system, respiratory, renal and eye anomalies. The most significant and constant neuropathological finding is partial or complete agenesis of the cerebellar vermis. The syndrome was first described by Joubert and colleagues as a familial agenesis of the cerebellar vermis and appears to be inherited as an autosomal recessive trait. A case of Joubert's syndrome is described in which second-trimester ultrasonography demonstrated abnormal findings in the fetal posterior fossa with associated renal abnormalities. However, postnatal sonography of the posterior fossa could not confirm the prenatal findings, and the diagnosis of Joubert's syndrome was only later established by computed tomography of the neonatal brain in the knowledge of the characteristic clinical picture.  (+info)

Matrix metalloproteinase-2 in a murine model of infantile-type polycystic kidney disease. (6/572)

It was previously found that elevated levels of matrix metalloproteinase (MMP)-2 (gelatinase A) and -9 (gelatinase B) were synthesized and secreted into the medium by cultured kidney tubules derived from cystic C57BL/6J-cpk mice. To determine whether increased synthesis and secretion occur in vivo in this mouse model of polycystic kidney disease, kidney protein extracts, mRNA, and tissue sections were compared for expression and activity of MMP-2 and -9. Although both MMP were detected in tissue extracts, the differences in expression levels and activity in normal and cystic kidneys were far greater for MMP-2. High levels of MMP-2 seemed to result from increased expression by the cystic kidneys predominantly in the second and third postnatal weeks (a time when the kidneys are undergoing rapid cystic enlargement). Much of the increased MMP was present in the inactive zymogen form, although active enzyme was readily detected by sodium dodecyl sulfate-polyacrylamide gel zymography and in situ zymography. MMP-2 was abnormally localized to the interstitium and to foci between cysts, suggesting that MMP-2 may regulate collagen accumulation at those sites, thus allowing cyst enlargement and limiting the severity of interstitial fibrosis.  (+info)

ATP release mechanisms in primary cultures of epithelia derived from the cysts of polycystic kidneys. (7/572)

Autosomal dominant polycystic kidney disease (ADPKD) cyst enlargement is exacerbated by accumulation of fluid within the lumen of the cyst. Extracellular nucleotides and nucleosides stimulate fluid and chloride (Cl-) secretion across epithelia and are potent autocrine and paracrine agonists within tissues. This study tests the hypothesis that ATP may be released by ADPKD epithelial cells. Once released, extracellular nucleotides and their metabolites may become "trapped" in the cyst lumen. As a consequence, extracellular ATP may augment ADPKD cyst enlargement through stimulation of salt and water secretion across ADPKD epithelia that encapsulate ADPKD cysts. To test this hypothesis, bioluminescence detection assays of ATP released from primary cultures of human ADPKD epithelial cells were compared with non-ADPKD human epithelial primary cultures. ADPKD cultures release comparable or greater amounts of ATP than non-ADPKD cultures derived from proximal tubule or cortex. ATP release in both ADPKD and non-ADPKD primary epithelial monolayers was directed largely into the apical medium; however, basolateral-directed ATP release under basal and stimulated conditions was also observed. Hypotonicity potentiated ATP release into the apical and basolateral medium in a reversible manner. Reconstitution of isotonic conditions with specific osmoles or inhibition with mechanosensitive ion channel blockers dampened hypotonicity-induced ATP release. "Flash-frozen" cyst fluids from ADPKD cysts, harvested from multiple donor kidneys, were screened by luminometry. A subset of cyst fluids contained as much as 0.5 to 10 microM ATP, doses sufficient to stimulate purinergic receptors. Taken together, these results show that ADPKD and non-ADPKD human epithelial primary cultures release ATP under basal and stimulated conditions and that ATP is released in vitro and into the cyst fluid by cystic epithelial cells in concentrations sufficient to stimulate ATP receptors. It is hypothesized that extracellular nucleotide release and signaling may contribute detrimentally to the gradual expansion of cyst fluid volume that is a hallmark of ADPKD.  (+info)

Dietary soy protein effects on inherited polycystic kidney disease are influenced by gender and protein level. (8/572)

The effects of dietary soy protein compared to casein were examined in male and female CD1-pcy/pcy (pcy) mice with polycystic kidney disease. Animals 10 wk of age were fed purified diets containing either soy protein isolate or casein given at a level of 17.4 or 6% protein. After 13 wk on the diets, body weights and serum concentrations of albumin and protein indicated that protein nutrition was adequate on all diets. Overall, animals fed soy protein versus casein had 28% lower (P = 0.0037) relative kidney weights (g/100 g body wt), 37% lower (P = 0.0089) cyst scores (% cyst area x relative kidney weight), and 25% less (P = 0.0144) kidney water (g). Dietary protein reduction resulted in 30% lower (P = 0.0010) relative kidney weights, 25% lower (P = 0.0327) cyst scores, and 35% less (P = 0.0001) kidney water. Analysis of interactions between main effects revealed that the effects of soy protein on kidney size were significant only in females, and that effects of soy protein on cyst score were significant only in animals on the low protein diets. In addition, differences in kidney weights and cyst score due to protein reduction were significant in animals fed soy protein, but not in those fed casein as the protein source. These results show that both dietary protein source and level significantly affect polycystic kidney disease in pcy animals, with the effects of dietary soy protein being most pronounced in female animals fed the low protein diets and the effects of protein reduction being most pronounced in animals fed soy protein-based diets.  (+info)

Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of multiple cysts in the kidneys. These cysts are fluid-filled sacs that can vary in size and can multiply, leading to enlarged kidneys. The increased size and number of cysts can result in reduced kidney function, high blood pressure, and eventually kidney failure.

There are two main types of PKD: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD). ADPKD is the most common form, affecting approximately 1 in every 500 people. It typically develops in adulthood. On the other hand, ARPKD is a rarer form, affecting about 1 in every 20,000 children, and it often presents in infancy or early childhood.

In addition to kidney problems, PKD can also affect other organs, such as the liver and the heart. It's important to note that while there is no cure for PKD, various treatments can help manage symptoms and slow down the progression of the disease.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder characterized by the growth of multiple cysts in the kidneys. These cysts are fluid-filled sacs that can vary in size and can multiply, leading to enlarged kidneys. The increased size and number of cysts can eventually result in reduced kidney function, high blood pressure, and potentially kidney failure.

ADPKD is an autosomal dominant disorder, meaning it only requires one copy of the altered gene (from either the mother or father) to have the disease. Each child of an affected individual has a 50% chance of inheriting the mutated gene. The two genes most commonly associated with ADPKD are PKD1 and PKD2, located on chromosomes 16 and 4, respectively.

Symptoms can vary widely among individuals with ADPKD, but they often include high blood pressure, back or side pain, headaches, increased abdominal size due to enlarged kidneys, blood in the urine, and kidney failure. Other complications may include cysts in the liver, pancreas, and/or brain (berries aneurysms).

Early diagnosis and management of ADPKD can help slow down disease progression and improve quality of life. Treatment typically includes controlling high blood pressure, managing pain, monitoring kidney function, and addressing complications as they arise. In some cases, dialysis or a kidney transplant may be necessary if kidney failure occurs.

Transient Receptor Potential (TRP) channels are a type of ion channel that play a crucial role in various physiological processes, including sensory perception, cellular signaling, and regulation of intracellular calcium levels. TRPP cation channels, also known as TRPP subfamily or polycystin channels, are a specific subgroup within the TRP channel family.

TRPP channels consist of two members: TRPP1 (also known as PKD1 or polycystin-1) and TRPP2 (also known as PKD2 or polycystin-2). These channels form heterodimers, meaning they are composed of two different subunits that come together to create a functional channel.

TRPP channels are primarily located in the primary cilium, a hair-like structure protruding from the cell surface, and in the endoplasmic reticulum (ER), an intracellular organelle involved in protein folding and calcium storage. They function as mechano- and chemosensors, responding to various stimuli such as mechanical forces, changes in temperature, pH, or chemical ligands.

TRPP channels are particularly important in the context of renal physiology and pathophysiology. Mutations in TRPP1 and TRPP2 have been linked to autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by the formation of fluid-filled cysts in the kidneys, leading to progressive loss of renal function.

In summary, TRPP cation channels are a subfamily of TRP channels formed by the heterodimerization of TRPP1 and TRPP2 subunits. They play essential roles in sensory perception, cellular signaling, and calcium homeostasis, with particular significance in renal physiology and pathophysiology.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the abnormal development and growth of numerous fluid-filled cysts in both kidneys. "Autosomal recessive" indicates that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

The disease primarily affects the renal tubules, which are the tiny structures inside the kidneys responsible for concentrating urine and reabsorbing essential substances back into the bloodstream. In ARPKD, these tubules become dilated and form cysts, leading to progressive kidney enlargement, scarring, and decreased function.

ARPKD is typically diagnosed in infancy or early childhood, and its severity can vary widely among affected individuals. Some may experience mild kidney impairment, while others may develop end-stage renal disease (ESRD) requiring dialysis or a kidney transplant. Additionally, ARPKD often affects the liver, causing congenital hepatic fibrosis and potentially leading to complications such as portal hypertension and liver failure.

The condition is caused by mutations in the PKHD1 gene, which provides instructions for producing a large protein called fibrocystin or polyductin. This protein plays crucial roles in maintaining the structure and function of renal tubules and bile ducts in the liver. When the PKHD1 gene is mutated, it results in the production of an abnormal or nonfunctional fibrocystin/polyductin protein, ultimately leading to the development of cysts and other associated symptoms.

Polycyctic Ovary Syndrome (PCOS) is a complex endocrine-metabolic disorder characterized by the presence of hyperandrogenism (excess male hormones), ovulatory dysfunction, and polycystic ovaries. The Rotterdam criteria are commonly used for diagnosis, which require at least two of the following three features:

1. Oligo- or anovulation (irregular menstrual cycles)
2. Clinical and/or biochemical signs of hyperandrogenism (e.g., hirsutism, acne, or high levels of androgens in the blood)
3. Polycystic ovaries on ultrasound examination (presence of 12 or more follicles measuring 2-9 mm in diameter, or increased ovarian volume >10 mL)

The exact cause of PCOS remains unclear, but it is believed to involve a combination of genetic and environmental factors. Insulin resistance and obesity are common findings in women with PCOS, which can contribute to the development of metabolic complications such as type 2 diabetes, dyslipidemia, and cardiovascular disease.

Management of PCOS typically involves a multidisciplinary approach that includes lifestyle modifications (diet, exercise, weight loss), medications to regulate menstrual cycles and reduce hyperandrogenism (e.g., oral contraceptives, metformin, anti-androgens), and fertility treatments if desired. Regular monitoring of metabolic parameters and long-term follow-up are essential for optimal management and prevention of complications.

A kidney, in medical terms, is one of two bean-shaped organs located in the lower back region of the body. They are essential for maintaining homeostasis within the body by performing several crucial functions such as:

1. Regulation of water and electrolyte balance: Kidneys help regulate the amount of water and various electrolytes like sodium, potassium, and calcium in the bloodstream to maintain a stable internal environment.

2. Excretion of waste products: They filter waste products from the blood, including urea (a byproduct of protein metabolism), creatinine (a breakdown product of muscle tissue), and other harmful substances that result from normal cellular functions or external sources like medications and toxins.

3. Endocrine function: Kidneys produce several hormones with important roles in the body, such as erythropoietin (stimulates red blood cell production), renin (regulates blood pressure), and calcitriol (activated form of vitamin D that helps regulate calcium homeostasis).

4. pH balance regulation: Kidneys maintain the proper acid-base balance in the body by excreting either hydrogen ions or bicarbonate ions, depending on whether the blood is too acidic or too alkaline.

5. Blood pressure control: The kidneys play a significant role in regulating blood pressure through the renin-angiotensin-aldosterone system (RAAS), which constricts blood vessels and promotes sodium and water retention to increase blood volume and, consequently, blood pressure.

Anatomically, each kidney is approximately 10-12 cm long, 5-7 cm wide, and 3 cm thick, with a weight of about 120-170 grams. They are surrounded by a protective layer of fat and connected to the urinary system through the renal pelvis, ureters, bladder, and urethra.

Kidney disease, also known as nephropathy or renal disease, refers to any functional or structural damage to the kidneys that impairs their ability to filter blood, regulate electrolytes, produce hormones, and maintain fluid balance. This damage can result from a wide range of causes, including diabetes, hypertension, glomerulonephritis, polycystic kidney disease, lupus, infections, drugs, toxins, and congenital or inherited disorders.

Depending on the severity and progression of the kidney damage, kidney diseases can be classified into two main categories: acute kidney injury (AKI) and chronic kidney disease (CKD). AKI is a sudden and often reversible loss of kidney function that occurs over hours to days, while CKD is a progressive and irreversible decline in kidney function that develops over months or years.

Symptoms of kidney diseases may include edema, proteinuria, hematuria, hypertension, electrolyte imbalances, metabolic acidosis, anemia, and decreased urine output. Treatment options depend on the underlying cause and severity of the disease and may include medications, dietary modifications, dialysis, or kidney transplantation.

A cyst is a closed sac, having a distinct membrane and division between the sac and its surrounding tissue, that contains fluid, air, or semisolid material. Cysts can occur in various parts of the body, including the skin, internal organs, and bones. They can be caused by various factors, such as infection, genetic predisposition, or blockage of a duct or gland. Some cysts may cause symptoms, such as pain or discomfort, while others may not cause any symptoms at all. Treatment for cysts depends on the type and location of the cyst, as well as whether it is causing any problems. Some cysts may go away on their own, while others may need to be drained or removed through a surgical procedure.

Cilia are tiny, hair-like structures that protrude from the surface of many types of cells in the body. They are composed of a core bundle of microtubules surrounded by a protein matrix and are covered with a membrane. Cilia are involved in various cellular functions, including movement of fluid or mucus across the cell surface, detection of external stimuli, and regulation of signaling pathways.

There are two types of cilia: motile and non-motile. Motile cilia are able to move in a coordinated manner to propel fluids or particles across a surface, such as those found in the respiratory tract and reproductive organs. Non-motile cilia, also known as primary cilia, are present on most cells in the body and serve as sensory organelles that detect chemical and mechanical signals from the environment.

Defects in cilia structure or function can lead to a variety of diseases, collectively known as ciliopathies. These conditions can affect multiple organs and systems in the body, including the brain, kidneys, liver, and eyes. Examples of ciliopathies include polycystic kidney disease, Bardet-Biedl syndrome, and Meckel-Gruber syndrome.

Cystic kidney diseases are a group of genetic disorders that cause fluid-filled sacs called cysts to form in the kidneys. These cysts can vary in size and can grow over time, which can lead to damage in the kidneys and affect their function. There are two main types of cystic kidney diseases: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD).

ADPKD is the most common type and is characterized by the presence of numerous cysts in both kidneys. It is usually diagnosed in adulthood, but it can also occur in children. The cysts can cause high blood pressure, kidney stones, urinary tract infections, and eventually kidney failure.

ARPKD is a rare, inherited disorder that affects both the kidneys and liver. It is characterized by the presence of numerous cysts in the kidneys and abnormalities in the bile ducts of the liver. ARPKD is usually diagnosed in infancy or early childhood and can cause serious complications such as respiratory distress, kidney failure, and liver fibrosis.

Other types of cystic kidney diseases include nephronophthisis, medullary cystic kidney disease, and glomerulocystic kidney disease. These conditions are also inherited and can cause kidney damage and kidney failure.

Treatment for cystic kidney diseases typically involves managing symptoms such as high blood pressure, pain, and infections. In some cases, surgery may be necessary to remove large cysts or to treat complications such as kidney stones. For individuals with advanced kidney disease, dialysis or a kidney transplant may be necessary.

Chronic kidney failure, also known as chronic kidney disease (CKD) stage 5 or end-stage renal disease (ESRD), is a permanent loss of kidney function that occurs gradually over a period of months to years. It is defined as a glomerular filtration rate (GFR) of less than 15 ml/min, which means the kidneys are filtering waste and excess fluids at less than 15% of their normal capacity.

CKD can be caused by various underlying conditions such as diabetes, hypertension, glomerulonephritis, polycystic kidney disease, and recurrent kidney infections. Over time, the damage to the kidneys can lead to a buildup of waste products and fluids in the body, which can cause a range of symptoms including fatigue, weakness, shortness of breath, nausea, vomiting, and confusion.

Treatment for chronic kidney failure typically involves managing the underlying condition, making lifestyle changes such as following a healthy diet, and receiving supportive care such as dialysis or a kidney transplant to replace lost kidney function.

Kidney tubules are the structural and functional units of the kidney responsible for reabsorption, secretion, and excretion of various substances. They are part of the nephron, which is the basic unit of the kidney's filtration and reabsorption process.

There are three main types of kidney tubules:

1. Proximal tubule: This is the initial segment of the kidney tubule that receives the filtrate from the glomerulus. It is responsible for reabsorbing approximately 65% of the filtrate, including water, glucose, amino acids, and electrolytes.
2. Loop of Henle: This U-shaped segment of the tubule consists of a thin descending limb, a thin ascending limb, and a thick ascending limb. The loop of Henle helps to concentrate urine by creating an osmotic gradient that allows water to be reabsorbed in the collecting ducts.
3. Distal tubule: This is the final segment of the kidney tubule before it empties into the collecting duct. It is responsible for fine-tuning the concentration of electrolytes and pH balance in the urine by selectively reabsorbing or secreting substances such as sodium, potassium, chloride, and hydrogen ions.

Overall, kidney tubules play a critical role in maintaining fluid and electrolyte balance, regulating acid-base balance, and removing waste products from the body.

Caroli disease is a rare genetic disorder that affects the liver and bile ducts. It is characterized by abnormal dilations or sac-like structures in the intrahepatic bile ducts, which are the ducts that carry bile from the liver to the gallbladder and small intestine. These dilations can lead to recurrent cholangitis (inflammation of the bile ducts), stone formation, and liver damage.

Caroli disease is usually diagnosed in childhood or early adulthood, and it can be associated with other congenital anomalies such as polycystic kidney disease. The exact cause of Caroli disease is not fully understood, but it is believed to be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the abnormal gene, one from each parent, to develop the condition.

Treatment for Caroli disease may include antibiotics to manage cholangitis, endoscopic procedures to remove stones or dilate strictures, and surgery to bypass or remove affected bile ducts. In severe cases, liver transplantation may be necessary. Regular monitoring of liver function and surveillance for complications are essential in the management of this condition.

Human chromosome pair 16 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 16 contains two homologous chromosomes, which are similar in size, shape, and genetic content but may have slight variations due to differences in the DNA sequences inherited from each parent.

Chromosome pair 16 is one of the 22 autosomal pairs, meaning it contains non-sex chromosomes that are present in both males and females. Chromosome 16 is a medium-sized chromosome, and it contains around 2,800 genes that provide instructions for making proteins and regulating various cellular processes.

Abnormalities in chromosome pair 16 can lead to genetic disorders such as chronic myeloid leukemia, some forms of mental retardation, and other developmental abnormalities.

Glomerular filtration rate (GFR) is a test used to check how well the kidneys are working. Specifically, it estimates how much blood passes through the glomeruli each minute. The glomeruli are the tiny fibers in the kidneys that filter waste from the blood. A lower GFR number means that the kidneys aren't working properly and may indicate kidney disease.

The GFR is typically calculated using a formula that takes into account the patient's serum creatinine level, age, sex, and race. The most commonly used formula is the CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration) equation. A normal GFR is usually above 90 mL/min/1.73m2, but this can vary depending on the individual's age and other factors.

Cyst fluid refers to the fluid accumulated within a cyst, which is a closed sac-like or capsular structure, typically filled with liquid or semi-solid material. Cysts can develop in various parts of the body for different reasons, and the composition of cyst fluid may vary depending on the type of cyst and its location.

In some cases, cyst fluid might contain proteins, sugars, hormones, or even cells from the surrounding tissue. Infected cysts may have pus-like fluid, while cancerous or precancerous cysts might contain abnormal cells or tumor markers. The analysis of cyst fluid can help medical professionals diagnose and manage various medical conditions, including infections, inflammatory diseases, genetic disorders, and cancers.

It is important to note that the term 'cyst fluid' generally refers to the liquid content within a cyst, but the specific composition and appearance of this fluid may vary significantly depending on the underlying cause and type of cyst.

Chronic Renal Insufficiency (CRI) is a medical condition characterized by a gradual and progressive loss of kidney function over a period of months or years. It is also known as Chronic Kidney Disease (CKD). The main function of the kidneys is to filter waste products and excess fluids from the blood, which are then excreted in the urine. When the kidneys become insufficient, these waste products and fluids accumulate in the body, leading to various complications.

CRI is defined as a glomerular filtration rate (GFR) of less than 60 ml/min/1.73m2 for three months or more, regardless of cause. GFR is a measure of kidney function that estimates how well the kidneys are filtering waste products from the blood. The condition is classified into five stages based on the severity of the disease and the GFR value.

Stage 1: GFR greater than or equal to 90 ml/min/1.73m2
Stage 2: GFR between 60-89 ml/min/1.73m2
Stage 3: GFR between 30-59 ml/min/1.73m2
Stage 4: GFR between 15-29 ml/min/1.73m2
Stage 5: GFR less than 15 ml/min/1.73m2 or dialysis

CRI can be caused by various underlying conditions such as diabetes, hypertension, glomerulonephritis, polycystic kidney disease, and other genetic or acquired disorders. Symptoms of CRI may include fatigue, weakness, loss of appetite, swelling in the legs and ankles, shortness of breath, and changes in urination patterns. Treatment for CRI focuses on slowing down the progression of the disease, managing symptoms, and preventing complications. This may involve lifestyle modifications, medication, dialysis, or kidney transplantation.

Liver diseases refer to a wide range of conditions that affect the normal functioning of the liver. The liver is a vital organ responsible for various critical functions such as detoxification, protein synthesis, and production of biochemicals necessary for digestion.

Liver diseases can be categorized into acute and chronic forms. Acute liver disease comes on rapidly and can be caused by factors like viral infections (hepatitis A, B, C, D, E), drug-induced liver injury, or exposure to toxic substances. Chronic liver disease develops slowly over time, often due to long-term exposure to harmful agents or inherent disorders of the liver.

Common examples of liver diseases include hepatitis, cirrhosis (scarring of the liver tissue), fatty liver disease, alcoholic liver disease, autoimmune liver diseases, genetic/hereditary liver disorders (like Wilson's disease and hemochromatosis), and liver cancers. Symptoms may vary widely depending on the type and stage of the disease but could include jaundice, abdominal pain, fatigue, loss of appetite, nausea, and weight loss.

Early diagnosis and treatment are essential to prevent progression and potential complications associated with liver diseases.

I'm sorry for any confusion, but "Rats, Mutant Strains" is not a recognized medical term or concept. It may be a term used in science fiction, gaming, or other non-medical contexts to refer to genetically modified rats with altered characteristics. However, in the field of medical research, scientists do conduct studies using various strains of lab rats, some of which have been selectively bred or genetically modified to exhibit specific traits, but these are not referred to as "mutant strains." If you have any questions related to medical definitions or concepts, I'd be happy to help with those!

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Disease progression is the worsening or advancement of a medical condition over time. It refers to the natural course of a disease, including its development, the severity of symptoms and complications, and the impact on the patient's overall health and quality of life. Understanding disease progression is important for developing appropriate treatment plans, monitoring response to therapy, and predicting outcomes.

The rate of disease progression can vary widely depending on the type of medical condition, individual patient factors, and the effectiveness of treatment. Some diseases may progress rapidly over a short period of time, while others may progress more slowly over many years. In some cases, disease progression may be slowed or even halted with appropriate medical interventions, while in other cases, the progression may be inevitable and irreversible.

In clinical practice, healthcare providers closely monitor disease progression through regular assessments, imaging studies, and laboratory tests. This information is used to guide treatment decisions and adjust care plans as needed to optimize patient outcomes and improve quality of life.

Kidney function tests (KFTs) are a group of diagnostic tests that evaluate how well your kidneys are functioning by measuring the levels of various substances in the blood and urine. The tests typically assess the glomerular filtration rate (GFR), which is an indicator of how efficiently the kidneys filter waste from the blood, as well as the levels of electrolytes, waste products, and proteins in the body.

Some common KFTs include:

1. Serum creatinine: A waste product that's produced by normal muscle breakdown and is excreted by the kidneys. Elevated levels may indicate reduced kidney function.
2. Blood urea nitrogen (BUN): Another waste product that's produced when protein is broken down and excreted by the kidneys. Increased BUN levels can suggest impaired kidney function.
3. Estimated glomerular filtration rate (eGFR): A calculation based on serum creatinine, age, sex, and race that estimates the GFR and provides a more precise assessment of kidney function than creatinine alone.
4. Urinalysis: An examination of a urine sample to detect abnormalities such as protein, blood, or bacteria that may indicate kidney disease.
5. Electrolyte levels: Measurement of sodium, potassium, chloride, and bicarbonate in the blood to ensure they're properly balanced, which is essential for normal kidney function.

KFTs are often ordered as part of a routine check-up or when kidney disease is suspected based on symptoms or other diagnostic tests. Regular monitoring of kidney function can help detect and manage kidney disease early, potentially preventing or slowing down its progression.

Orofaciodigital syndromes (OFDS) are a group of rare genetic disorders that primarily affect the development of the face, mouth, and digits. The term "orofaciodigital" describes the specific areas of the body that are impacted: oro (mouth), facio (face), and digital (fingers and toes).

There are several types of OFDS, each with its own set of symptoms and genetic cause. Some common features across various types of OFDS include:

1. Oral manifestations: These may include cleft lip and/or palate, tongue abnormalities, such as a lobulated or bifid tongue, and dental anomalies.
2. Facial manifestations: These can range from mild to severe and may include hypertelorism (widely spaced eyes), broad nasal bridge, low-set ears, and a thin upper lip.
3. Digital manifestations: Abnormalities of the fingers and toes may include brachydactyly (shortened digits), clinodactyily (curved digits), syndactyly (fused digits), or extra digits (polydactyly). Nail abnormalities might also be present.

The different types of OFDS are caused by mutations in various genes, such as OFD1, CCDC8, and TMEM216. The specific genetic cause determines the type of OFDS and its associated symptoms.

It is essential to consult with a medical professional or genetic counselor for an accurate diagnosis and personalized management plan if you suspect or have been diagnosed with an orofaciodigital syndrome.

Kidney transplantation is a surgical procedure where a healthy kidney from a deceased or living donor is implanted into a patient with end-stage renal disease (ESRD) or permanent kidney failure. The new kidney takes over the functions of filtering waste and excess fluids from the blood, producing urine, and maintaining the body's electrolyte balance.

The transplanted kidney is typically placed in the lower abdomen, with its blood vessels connected to the recipient's iliac artery and vein. The ureter of the new kidney is then attached to the recipient's bladder to ensure proper urine flow. Following the surgery, the patient will require lifelong immunosuppressive therapy to prevent rejection of the transplanted organ by their immune system.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Collecting kidney tubules, also known as collecting ducts, are the final portion of the renal tubule in the nephron of the kidney. They collect filtrate from the distal convoluted tubules and glomeruli and are responsible for the reabsorption of water and electrolytes back into the bloodstream under the influence of antidiuretic hormone (ADH) and aldosterone. The collecting ducts then deliver the remaining filtrate to the ureter, which transports it to the bladder for storage until urination.

Vasopressin receptors are a type of G protein-coupled receptor that bind to and are activated by the hormone vasopressin (also known as antidiuretic hormone or ADH). There are two main types of vasopressin receptors, V1 and V2.

V1 receptors are found in various tissues throughout the body, including vascular smooth muscle, heart, liver, and kidney. Activation of V1 receptors leads to vasoconstriction (constriction of blood vessels), increased heart rate and force of heart contractions, and release of glycogen from the liver.

V2 receptors are primarily found in the kidney's collecting ducts. When activated, they increase water permeability in the collecting ducts, allowing for the reabsorption of water into the bloodstream and reducing urine production. This helps to regulate fluid balance and maintain normal blood pressure.

Abnormalities in vasopressin receptor function can contribute to various medical conditions, including hypertension, heart failure, and kidney disease.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Proteinuria is a medical term that refers to the presence of excess proteins, particularly albumin, in the urine. Under normal circumstances, only small amounts of proteins should be found in the urine because the majority of proteins are too large to pass through the glomeruli, which are the filtering units of the kidneys.

However, when the glomeruli become damaged or diseased, they may allow larger molecules such as proteins to leak into the urine. Persistent proteinuria is often a sign of kidney disease and can indicate damage to the glomeruli. It is usually detected through a routine urinalysis and may be confirmed with further testing.

The severity of proteinuria can vary, and it can be a symptom of various underlying conditions such as diabetes, hypertension, glomerulonephritis, and other kidney diseases. Treatment for proteinuria depends on the underlying cause and may include medications to control blood pressure, manage diabetes, or reduce protein loss in the urine.

Renal hypertension, also known as renovascular hypertension, is a type of secondary hypertension (high blood pressure) that is caused by narrowing or obstruction of the renal arteries or veins, which supply blood to the kidneys. This can lead to decreased blood flow and oxygen delivery to the kidney tissue, activating the renin-angiotensin-aldosterone system (RAAS) and resulting in increased peripheral vascular resistance, sodium retention, and extracellular fluid volume, ultimately causing hypertension.

Renal hypertension can be classified into two types:

1. Renin-dependent renal hypertension: This is caused by a decrease in blood flow to the kidneys, leading to increased renin release from the juxtaglomerular cells of the kidney. Renin converts angiotensinogen to angiotensin I, which is then converted to angiotensin II by angiotensin-converting enzyme (ACE). Angiotensin II is a potent vasoconstrictor that causes an increase in peripheral vascular resistance and blood pressure.
2. Renin-independent renal hypertension: This is caused by increased sodium retention and extracellular fluid volume, leading to an increase in blood pressure. This can be due to various factors such as obstructive sleep apnea, primary aldosteronism, or pheochromocytoma.

Renal hypertension is often asymptomatic but can lead to serious complications such as kidney damage, heart failure, and stroke if left untreated. Diagnosis of renal hypertension involves imaging studies such as renal artery duplex ultrasound, CT angiography, or magnetic resonance angiography (MRA) to identify any narrowing or obstruction in the renal arteries or veins. Treatment options include medications such as ACE inhibitors, angiotensin receptor blockers (ARBs), calcium channel blockers, and diuretics, as well as interventions such as angioplasty and stenting to improve blood flow to the kidneys.

Creatinine is a waste product that's produced by your muscles and removed from your body by your kidneys. Creatinine is a breakdown product of creatine, a compound found in meat and fish, as well as in the muscles of vertebrates, including humans.

In healthy individuals, the kidneys filter out most of the creatinine and eliminate it through urine. However, when the kidneys are not functioning properly, creatinine levels in the blood can rise. Therefore, measuring the amount of creatinine in the blood or urine is a common way to test how well the kidneys are working. High creatinine levels in the blood may indicate kidney damage or kidney disease.

I'm sorry for any confusion, but "Iothalamic Acid" doesn't appear to be a recognized term in medical or physiological literature. It's possible there may be a spelling error or it could be a highly specialized or obscure term used only in specific research contexts.

If you meant "Iothalamate," that is a compound used as a contrast agent in medical imaging, specifically in radiology for procedures like intravenous pyelograms (IVPs) and computed tomography (CT) scans. Iothalamate is not typically referred to as an acid, though.

Please double-check the term you're looking for, and if there's any chance you meant "Iothalamate," let me know so I can provide a more accurate response!

Hematuria is a medical term that refers to the presence of blood in urine. It can be visible to the naked eye, which is called gross hematuria, or detected only under a microscope, known as microscopic hematuria. The blood in urine may come from any site along the urinary tract, including the kidneys, ureters, bladder, or urethra. Hematuria can be a symptom of various medical conditions, such as urinary tract infections, kidney stones, kidney disease, or cancer of the urinary tract. It is essential to consult a healthcare professional if you notice blood in your urine to determine the underlying cause and receive appropriate treatment.

Hyperandrogenism is a medical condition characterized by excessive levels of androgens (male sex hormones) in the body. This can lead to various symptoms such as hirsutism (excessive hair growth), acne, irregular menstrual periods, and infertility in women. It can be caused by conditions like polycystic ovary syndrome (PCOS), congenital adrenal hyperplasia, and tumors in the ovaries or adrenal glands. Proper diagnosis and management of hyperandrogenism is important to prevent complications and improve quality of life.

Epithelial cells are types of cells that cover the outer surfaces of the body, line the inner surfaces of organs and glands, and form the lining of blood vessels and body cavities. They provide a protective barrier against the external environment, regulate the movement of materials between the internal and external environments, and are involved in the sense of touch, temperature, and pain. Epithelial cells can be squamous (flat and thin), cuboidal (square-shaped and of equal height), or columnar (tall and narrow) in shape and are classified based on their location and function.

Organ size refers to the volume or physical measurement of an organ in the body of an individual. It can be described in terms of length, width, and height or by using specialized techniques such as imaging studies (like CT scans or MRIs) to determine the volume. The size of an organ can vary depending on factors such as age, sex, body size, and overall health status. Changes in organ size may indicate various medical conditions, including growths, inflammation, or atrophy.

Ciliary motility disorders are a group of rare genetic conditions that affect the function of cilia, which are tiny hair-like structures on the surface of cells in the body. Cilia play an important role in moving fluids and particles across the cell surface, including the movement of mucus and other substances in the respiratory system, the movement of eggs and sperm in the reproductive system, and the movement of fluid in the inner ear.

Ciliary motility disorders are caused by mutations in genes that are responsible for the proper functioning of cilia. These mutations can lead to abnormalities in the structure or function of cilia, which can result in a range of symptoms depending on the specific disorder and the parts of the body that are affected.

Some common symptoms of ciliary motility disorders include recurrent respiratory infections, chronic sinusitis, hearing loss, infertility, and situs inversus, a condition in which the major organs are reversed or mirrored from their normal positions. There are several different types of ciliary motility disorders, including primary ciliary dyskinesia, Kartagener syndrome, and immotile cilia syndrome.

Treatment for ciliary motility disorders typically involves addressing the specific symptoms and underlying causes of the disorder. This may include antibiotics to treat respiratory infections, surgery to correct structural abnormalities, or assisted reproductive technologies to help with infertility.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

Hand-assisted laparoscopy (HAL) is a surgical technique that combines the principles of traditional open surgery and minimally invasive laparoscopic surgery. In HAL, a small incision is made, typically in the abdomen, through which the surgeon's hand can be introduced into the abdominal cavity while maintaining a pneumoperitoneum (insufflation of carbon dioxide gas to create a working space). This approach allows the surgeon to use their hands to perform complex surgical procedures with the aid of laparoscopic instruments, which are inserted through other small incisions.

The hand-assisted technique provides several advantages over traditional laparoscopy, including improved tactile feedback, enhanced dexterity, and more precise dissection and manipulation of tissues. This approach is often used in complex urological, gynecological, and general surgical procedures, such as nephrectomy (removal of the kidney), colectomy (removal of part of the colon), and gastrectomy (removal of part of the stomach).

Hand-assisted laparoscopy offers several benefits over traditional open surgery, including smaller incisions, reduced postoperative pain, shorter hospital stays, quicker recovery times, and improved cosmetic outcomes. However, HAL still requires general anesthesia and carries the risks associated with any surgical procedure, such as infection, bleeding, and injury to surrounding tissues or organs.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

A chronic disease is a long-term medical condition that often progresses slowly over a period of years and requires ongoing management and care. These diseases are typically not fully curable, but symptoms can be managed to improve quality of life. Common chronic diseases include heart disease, stroke, cancer, diabetes, arthritis, and COPD (chronic obstructive pulmonary disease). They are often associated with advanced age, although they can also affect children and younger adults. Chronic diseases can have significant impacts on individuals' physical, emotional, and social well-being, as well as on healthcare systems and society at large.

The kidney cortex is the outer region of the kidney where most of the functional units called nephrons are located. It plays a crucial role in filtering blood and regulating water, electrolyte, and acid-base balance in the body. The kidney cortex contains the glomeruli, proximal tubules, loop of Henle, and distal tubules, which work together to reabsorb necessary substances and excrete waste products into the urine.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

Multicystic Dysplastic Kidney (MCDK) is a congenital kidney disorder, which means it is present at birth. It occurs when the kidney doesn't develop properly and forms one or more non-functioning cysts. The kidney with MCDK is usually small and has abnormally shaped cysts that can be seen on an ultrasound.

In a normal kidney, the renal pelvis (the central part of the kidney where urine collects) and the calyces (the smaller cups that receive urine from the renal tubules) are shaped like funnels to help direct urine into the ureter and then to the bladder. However, in a dysplastic kidney, these structures don't form correctly and instead develop as cysts of various sizes.

MCDK is usually unilateral (occurring in one kidney), but it can be bilateral (occurring in both kidneys), which is a more serious condition because it can lead to kidney failure. Most cases of MCDK are discovered prenatally during routine ultrasounds, and if the other kidney is normal, no treatment is necessary. The affected kidney will shrink over time and may disappear entirely. However, regular follow-ups with a healthcare provider are essential to monitor kidney function and overall health.

Renal dialysis is a medical procedure that is used to artificially remove waste products, toxins, and excess fluids from the blood when the kidneys are no longer able to perform these functions effectively. This process is also known as hemodialysis.

During renal dialysis, the patient's blood is circulated through a special machine called a dialyzer or an artificial kidney, which contains a semi-permeable membrane that filters out waste products and excess fluids from the blood. The cleaned blood is then returned to the patient's body.

Renal dialysis is typically recommended for patients with advanced kidney disease or kidney failure, such as those with end-stage renal disease (ESRD). It is a life-sustaining treatment that helps to maintain the balance of fluids and electrolytes in the body, prevent the buildup of waste products and toxins, and control blood pressure.

There are two main types of renal dialysis: hemodialysis and peritoneal dialysis. Hemodialysis is the most common type and involves using a dialyzer to filter the blood outside the body. Peritoneal dialysis, on the other hand, involves placing a catheter in the abdomen and using the lining of the abdomen (peritoneum) as a natural filter to remove waste products and excess fluids from the body.

Overall, renal dialysis is an essential treatment option for patients with kidney failure, helping them to maintain their quality of life and prolong their survival.

A spermatocele is a type of cyst that develops in the epididymis, which is a small, coiled tube located on the back surface of the testicle. This cyst typically contains sperm and fluid from the epididymis, and it is usually benign and harmless.

Spermatoceles are often asymptomatic and may be discovered during a routine physical examination or self-examination. In some cases, however, they may cause discomfort or pain, particularly if they become large enough to press on the testicle or surrounding structures.

While spermatoceles do not typically require treatment unless they are causing symptoms, it is important to have them evaluated by a healthcare provider to rule out other potential causes of any symptoms and to ensure that appropriate treatment is provided if necessary.

A nephron is the basic structural and functional unit of the kidney. It is responsible for filtering blood, reabsorbing necessary substances, and excreting waste products into the urine. Each human kidney contains approximately one million nephrons.

The structure of a nephron includes a glomerulus, which is a tuft of capillaries surrounded by Bowman's capsule. The glomerulus filters blood, allowing small molecules like water and solutes to pass through while keeping larger molecules like proteins and blood cells within the capillaries.

The filtrate then passes through the tubular portion of the nephron, which includes the proximal convoluted tubule, loop of Henle, distal convoluted tubule, and collecting duct. The tubular portion reabsorbs necessary substances like water, glucose, amino acids, and electrolytes back into the bloodstream while excreting waste products like urea and creatinine into the urine.

Overall, nephrons play a critical role in maintaining fluid and electrolyte balance, regulating blood pressure, and removing waste products from the body.

The proximal kidney tubule is the initial portion of the renal tubule in the nephron of the kidney. It is located in the renal cortex and is called "proximal" because it is closer to the glomerulus, compared to the distal tubule. The proximal tubule plays a crucial role in the reabsorption of water, electrolytes, and nutrients from the filtrate that has been formed by the glomerulus. It also helps in the secretion of waste products and other substances into the urine.

The proximal tubule is divided into two segments: the pars convoluta and the pars recta. The pars convoluta is the curved portion that receives filtrate from the Bowman's capsule, while the pars recta is the straight portion that extends deeper into the renal cortex.

The proximal tubule is lined with a simple cuboidal epithelium, and its cells are characterized by numerous mitochondria, which provide energy for active transport processes. The apical surface of the proximal tubular cells has numerous microvilli, forming a brush border that increases the surface area for reabsorption.

In summary, the proximal kidney tubule is a critical site for the reabsorption of water, electrolytes, and nutrients from the glomerular filtrate, contributing to the maintenance of fluid and electrolyte balance in the body.

Renal insufficiency, also known as kidney failure, is a medical condition in which the kidneys are unable to properly filter waste products and excess fluids from the blood. This results in a buildup of these substances in the body, which can cause a variety of symptoms such as weakness, shortness of breath, and fluid retention. Renal insufficiency can be acute, meaning it comes on suddenly, or chronic, meaning it develops over time. It is typically diagnosed through blood tests, urine tests, and imaging studies. Treatment may include medications to control symptoms, dietary changes, and in severe cases, dialysis or a kidney transplant.

Hirsutism is a medical condition characterized by excessive hair growth in women in areas where hair growth is typically androgen-dependent, such as the face, chest, lower abdomen, and inner thighs. This hair growth is often thick, dark, and coarse, resembling male-pattern hair growth. Hirsutism can be caused by various factors, including hormonal imbalances, certain medications, and genetic conditions. It's essential to consult a healthcare professional if you experience excessive or unwanted hair growth to determine the underlying cause and develop an appropriate treatment plan.

Nephrectomy is a surgical procedure in which all or part of a kidney is removed. It may be performed due to various reasons such as severe kidney damage, kidney cancer, or living donor transplantation. The type of nephrectomy depends on the reason for the surgery - a simple nephrectomy involves removing only the affected portion of the kidney, while a radical nephrectomy includes removal of the whole kidney along with its surrounding tissues like the adrenal gland and lymph nodes.

Kidney calculi, also known as kidney stones, are hard deposits made of minerals and salts that form inside your kidneys. They can range in size from a grain of sand to a golf ball. When they're small enough, they can be passed through your urine without causing too much discomfort. However, larger stones may block the flow of urine, causing severe pain and potentially leading to serious complications such as urinary tract infections or kidney damage if left untreated.

The formation of kidney calculi is often associated with factors like dehydration, high levels of certain minerals in your urine, family history, obesity, and certain medical conditions such as gout or inflammatory bowel disease. Symptoms of kidney stones typically include severe pain in the back, side, lower abdomen, or groin; nausea and vomiting; fever and chills if an infection is present; and blood in the urine. Treatment options depend on the size and location of the stone but may include medications to help pass the stone, shock wave lithotripsy to break up the stone, or surgical removal of the stone in severe cases.

A "mutant strain of mice" in a medical context refers to genetically engineered mice that have specific genetic mutations introduced into their DNA. These mutations can be designed to mimic certain human diseases or conditions, allowing researchers to study the underlying biological mechanisms and test potential therapies in a controlled laboratory setting.

Mutant strains of mice are created through various techniques, including embryonic stem cell manipulation, gene editing technologies such as CRISPR-Cas9, and radiation-induced mutagenesis. These methods allow scientists to introduce specific genetic changes into the mouse genome, resulting in mice that exhibit altered physiological or behavioral traits.

These strains of mice are widely used in biomedical research because their short lifespan, small size, and high reproductive rate make them an ideal model organism for studying human diseases. Additionally, the mouse genome has been well-characterized, and many genetic tools and resources are available to researchers working with these animals.

Examples of mutant strains of mice include those that carry mutations in genes associated with cancer, neurodegenerative disorders, metabolic diseases, and immunological conditions. These mice provide valuable insights into the pathophysiology of human diseases and help advance our understanding of potential therapeutic interventions.

TOR (Target Of Rapamycin) Serine-Threonine Kinases are a family of conserved protein kinases that play crucial roles in the regulation of cell growth, proliferation, and metabolism in response to various environmental cues such as nutrients, growth factors, and energy status. They are named after their ability to phosphorylate serine and threonine residues on target proteins.

Mammalian cells express two distinct TOR kinases, mTORC1 and mTORC2, which have different protein compositions and functions. mTORC1 is rapamycin-sensitive and regulates cell growth, proliferation, and metabolism by phosphorylating downstream targets such as p70S6 kinase and 4E-BP1, thereby controlling protein synthesis, autophagy, and lysosome biogenesis. mTORC2 is rapamycin-insensitive and regulates cell survival, cytoskeleton organization, and metabolism by phosphorylating AGC kinases such as AKT and PKCα.

Dysregulation of TOR Serine-Threonine Kinases has been implicated in various human diseases, including cancer, diabetes, and neurological disorders. Therefore, targeting TOR kinases has emerged as a promising therapeutic strategy for the treatment of these diseases.

Cell surface receptors, also known as membrane receptors, are proteins located on the cell membrane that bind to specific molecules outside the cell, known as ligands. These receptors play a crucial role in signal transduction, which is the process of converting an extracellular signal into an intracellular response.

Cell surface receptors can be classified into several categories based on their structure and mechanism of action, including:

1. Ion channel receptors: These receptors contain a pore that opens to allow ions to flow across the cell membrane when they bind to their ligands. This ion flux can directly activate or inhibit various cellular processes.
2. G protein-coupled receptors (GPCRs): These receptors consist of seven transmembrane domains and are associated with heterotrimeric G proteins that modulate intracellular signaling pathways upon ligand binding.
3. Enzyme-linked receptors: These receptors possess an intrinsic enzymatic activity or are linked to an enzyme, which becomes activated when the receptor binds to its ligand. This activation can lead to the initiation of various signaling cascades within the cell.
4. Receptor tyrosine kinases (RTKs): These receptors contain intracellular tyrosine kinase domains that become activated upon ligand binding, leading to the phosphorylation and activation of downstream signaling molecules.
5. Integrins: These receptors are transmembrane proteins that mediate cell-cell or cell-matrix interactions by binding to extracellular matrix proteins or counter-receptors on adjacent cells. They play essential roles in cell adhesion, migration, and survival.

Cell surface receptors are involved in various physiological processes, including neurotransmission, hormone signaling, immune response, and cell growth and differentiation. Dysregulation of these receptors can contribute to the development of numerous diseases, such as cancer, diabetes, and neurological disorders.

Hypertension is a medical term used to describe abnormally high blood pressure in the arteries, often defined as consistently having systolic blood pressure (the top number in a blood pressure reading) over 130 mmHg and/or diastolic blood pressure (the bottom number) over 80 mmHg. It is also commonly referred to as high blood pressure.

Hypertension can be classified into two types: primary or essential hypertension, which has no identifiable cause and accounts for about 95% of cases, and secondary hypertension, which is caused by underlying medical conditions such as kidney disease, hormonal disorders, or use of certain medications.

If left untreated, hypertension can lead to serious health complications such as heart attack, stroke, heart failure, and chronic kidney disease. Therefore, it is important for individuals with hypertension to manage their condition through lifestyle modifications (such as healthy diet, regular exercise, stress management) and medication if necessary, under the guidance of a healthcare professional.

'Poisonous fishes' are species of fish that contain toxic substances in their bodies, which can cause harm or injury to other organisms, including humans. These toxins can be present in various parts of the fish, such as the flesh, skin, organs, or even in the form of venomous spines.

There are several types of poisonous fishes, including:

1. Pufferfish (Fugu): These fish contain a potent neurotoxin called tetrodotoxin (TTX) in their organs, especially the liver and ovaries. TTX is highly toxic and can cause paralysis and death if ingested in even small amounts.
2. Stonefish: Stonefishes are venomous fishes that have sharp, spiny dorsal fins that can inject a painful toxin into the skin when stepped on or touched. The venom can cause severe pain, swelling, and tissue damage, and in some cases, it can lead to respiratory failure and death.
3. Blue-ringed octopuses: While not technically fish, blue-ringed octopuses are often included in discussions of poisonous marine life. They have venom glands that produce a powerful neurotoxin called tetrodotoxin (TTX), which can cause paralysis and death if it enters the bloodstream.
4. Cone snails: Cone snails are predatory mollusks that use a harpoon-like tooth to inject venom into their prey. Some species of cone snail have venom that contains powerful neurotoxins, which can cause paralysis and death in humans.
5. Lionfish: Lionfish are venomous fishes that have spines on their dorsal, pelvic, and anal fins that can inject a painful toxin into the skin when touched or stepped on. The venom can cause pain, swelling, and other symptoms, but it is rarely fatal to humans.

It's important to note that many species of fish can become toxic if they consume harmful algae blooms (HABs) or other contaminants in their environment. These "toxic fishes" are not considered poisonous by definition, as their toxicity is not inherent to their biology.

Medical Definition:

"Risk factors" are any attribute, characteristic or exposure of an individual that increases the likelihood of developing a disease or injury. They can be divided into modifiable and non-modifiable risk factors. Modifiable risk factors are those that can be changed through lifestyle choices or medical treatment, while non-modifiable risk factors are inherent traits such as age, gender, or genetic predisposition. Examples of modifiable risk factors include smoking, alcohol consumption, physical inactivity, and unhealthy diet, while non-modifiable risk factors include age, sex, and family history. It is important to note that having a risk factor does not guarantee that a person will develop the disease, but rather indicates an increased susceptibility.

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that causes non-cancerous (benign) tumors to grow in many parts of the body. These tumors can affect the brain, skin, heart, kidneys, eyes, and lungs. The signs and symptoms of TSC can vary widely, depending on where the tumors develop and how severely a person is affected.

The condition is caused by mutations in either the TSC1 or TSC2 gene, which regulate a protein that helps control cell growth and division. When these genes are mutated, the protein is not produced correctly, leading to excessive cell growth and the development of tumors.

TSC is typically diagnosed based on clinical symptoms, medical imaging, and genetic testing. Treatment for TSC often involves a multidisciplinary approach, with specialists in neurology, dermatology, cardiology, nephrology, pulmonology, and ophthalmology working together to manage the various symptoms of the condition. Medications, surgery, and other therapies may be used to help control seizures, developmental delays, skin abnormalities, and other complications of TSC.

Albuminuria is a medical condition that refers to the presence of albumin in the urine. Albumin is a type of protein normally found in the blood, but not in the urine. When the kidneys are functioning properly, they prevent large proteins like albumin from passing through into the urine. However, when the kidneys are damaged or not working correctly, such as in nephrotic syndrome or other kidney diseases, small amounts of albumin can leak into the urine.

The amount of albumin in the urine is often measured in milligrams per liter (mg/L) or in a spot urine sample, as the albumin-to-creatinine ratio (ACR). A small amount of albumin in the urine is called microalbuminuria, while a larger amount is called macroalbuminuria or proteinuria. The presence of albuminuria can indicate kidney damage and may be a sign of underlying medical conditions such as diabetes or high blood pressure. It is important to monitor and manage albuminuria to prevent further kidney damage and potential complications.

Signal transduction is the process by which a cell converts an extracellular signal, such as a hormone or neurotransmitter, into an intracellular response. This involves a series of molecular events that transmit the signal from the cell surface to the interior of the cell, ultimately resulting in changes in gene expression, protein activity, or metabolism.

The process typically begins with the binding of the extracellular signal to a receptor located on the cell membrane. This binding event activates the receptor, which then triggers a cascade of intracellular signaling molecules, such as second messengers, protein kinases, and ion channels. These molecules amplify and propagate the signal, ultimately leading to the activation or inhibition of specific cellular responses.

Signal transduction pathways are highly regulated and can be modulated by various factors, including other signaling molecules, post-translational modifications, and feedback mechanisms. Dysregulation of these pathways has been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.

A kidney glomerulus is a functional unit in the nephron of the kidney. It is a tuft of capillaries enclosed within a structure called Bowman's capsule, which filters waste and excess fluids from the blood. The glomerulus receives blood from an afferent arteriole and drains into an efferent arteriole.

The process of filtration in the glomerulus is called ultrafiltration, where the pressure within the glomerular capillaries drives plasma fluid and small molecules (such as ions, glucose, amino acids, and waste products) through the filtration membrane into the Bowman's space. Larger molecules, like proteins and blood cells, are retained in the blood due to their larger size. The filtrate then continues down the nephron for further processing, eventually forming urine.

Potassium citrate is a medication and dietary supplement that contains potassium and citrate. Medically, it is used to treat and prevent kidney stones, as well as to manage metabolic acidosis in people with chronic kidney disease. Potassium citrate works by increasing the pH of urine, making it less acidic, which can help to dissolve certain types of kidney stones and prevent new ones from forming. It is also used as an alkalizing agent in the treatment of various conditions that cause acidosis.

In addition to its medical uses, potassium citrate is also found naturally in some fruits and vegetables, such as oranges, grapefruits, lemons, limes, and spinach. It is often used as a food additive and preservative, and can be found in a variety of processed foods and beverages.

It's important to note that taking too much potassium citrate can lead to high levels of potassium in the blood, which can be dangerous. Therefore, it is important to follow the dosage instructions carefully and talk to your doctor before taking this medication if you have any medical conditions or are taking any other medications.

Uromodulin, also known as Tamm-Horsfall protein, is a glycoprotein that is primarily produced in the thick ascending limb of the loop of Henle in the kidney. It is the most abundant protein found in normal urine. Uromodulin plays a role in the protection of the urinary tract by preventing the formation of calcium oxalate and brushite crystals, which can lead to kidney stones. Additionally, it has been implicated in various renal diseases, including chronic kidney disease and kidney transplant rejection.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

A biological marker, often referred to as a biomarker, is a measurable indicator that reflects the presence or severity of a disease state, or a response to a therapeutic intervention. Biomarkers can be found in various materials such as blood, tissues, or bodily fluids, and they can take many forms, including molecular, histologic, radiographic, or physiological measurements.

In the context of medical research and clinical practice, biomarkers are used for a variety of purposes, such as:

1. Diagnosis: Biomarkers can help diagnose a disease by indicating the presence or absence of a particular condition. For example, prostate-specific antigen (PSA) is a biomarker used to detect prostate cancer.
2. Monitoring: Biomarkers can be used to monitor the progression or regression of a disease over time. For instance, hemoglobin A1c (HbA1c) levels are monitored in diabetes patients to assess long-term blood glucose control.
3. Predicting: Biomarkers can help predict the likelihood of developing a particular disease or the risk of a negative outcome. For example, the presence of certain genetic mutations can indicate an increased risk for breast cancer.
4. Response to treatment: Biomarkers can be used to evaluate the effectiveness of a specific treatment by measuring changes in the biomarker levels before and after the intervention. This is particularly useful in personalized medicine, where treatments are tailored to individual patients based on their unique biomarker profiles.

It's important to note that for a biomarker to be considered clinically valid and useful, it must undergo rigorous validation through well-designed studies, including demonstrating sensitivity, specificity, reproducibility, and clinical relevance.

Cell proliferation is the process by which cells increase in number, typically through the process of cell division. In the context of biology and medicine, it refers to the reproduction of cells that makes up living tissue, allowing growth, maintenance, and repair. It involves several stages including the transition from a phase of quiescence (G0 phase) to an active phase (G1 phase), DNA replication in the S phase, and mitosis or M phase, where the cell divides into two daughter cells.

Abnormal or uncontrolled cell proliferation is a characteristic feature of many diseases, including cancer, where deregulated cell cycle control leads to excessive and unregulated growth of cells, forming tumors that can invade surrounding tissues and metastasize to distant sites in the body.

I believe there might be a misunderstanding in your question. "Dogs" is not a medical term or condition. It is the common name for a domesticated carnivore of the family Canidae, specifically the genus Canis, which includes wolves, foxes, and other extant and extinct species of mammals. Dogs are often kept as pets and companions, and they have been bred in a wide variety of forms and sizes for different purposes, such as hunting, herding, guarding, assisting police and military forces, and providing companionship and emotional support.

If you meant to ask about a specific medical condition or term related to dogs, please provide more context so I can give you an accurate answer.

Oligomenorrhea is a medical term used to describe infrequent menstrual periods, where the cycle length is more than 35 days but less than 68 days. It's considered a menstrual disorder and can affect people of reproductive age. The causes of oligomenorrhea are varied, including hormonal imbalances, polycystic ovary syndrome (PCOS), thyroid disorders, excessive exercise, significant weight loss or gain, and stress. In some cases, it may not cause any other symptoms, but in others, it can be associated with infertility, hirsutism (excessive hair growth), acne, or obesity. Treatment depends on the underlying cause and may include lifestyle modifications, hormonal medications, or surgery in rare cases.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

Kidney neoplasms refer to abnormal growths or tumors in the kidney tissues that can be benign (non-cancerous) or malignant (cancerous). These growths can originate from various types of kidney cells, including the renal tubules, glomeruli, and the renal pelvis.

Malignant kidney neoplasms are also known as kidney cancers, with renal cell carcinoma being the most common type. Benign kidney neoplasms include renal adenomas, oncocytomas, and angiomyolipomas. While benign neoplasms are generally not life-threatening, they can still cause problems if they grow large enough to compromise kidney function or if they undergo malignant transformation.

Early detection and appropriate management of kidney neoplasms are crucial for improving patient outcomes and overall prognosis. Regular medical check-ups, imaging studies, and urinalysis can help in the early identification of these growths, allowing for timely intervention and treatment.

Benzazepines are a class of heterocyclic compounds that contain a benzene fused to a diazepine ring. In the context of pharmaceuticals, benzazepines refer to a group of drugs with various therapeutic uses, such as antipsychotics and antidepressants. Some examples of benzazepine-derived drugs include clozapine, olanzapine, and loxoprofen. These drugs have complex mechanisms of action, often involving multiple receptor systems in the brain.

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

Acute kidney injury (AKI), also known as acute renal failure, is a rapid loss of kidney function that occurs over a few hours or days. It is defined as an increase in the serum creatinine level by 0.3 mg/dL within 48 hours or an increase in the creatinine level to more than 1.5 times baseline, which is known or presumed to have occurred within the prior 7 days, or a urine volume of less than 0.5 mL/kg per hour for six hours.

AKI can be caused by a variety of conditions, including decreased blood flow to the kidneys, obstruction of the urinary tract, exposure to toxic substances, and certain medications. Symptoms of AKI may include decreased urine output, fluid retention, electrolyte imbalances, and metabolic acidosis. Treatment typically involves addressing the underlying cause of the injury and providing supportive care, such as dialysis, to help maintain kidney function until the injury resolves.

Retrospective studies, also known as retrospective research or looking back studies, are a type of observational study that examines data from the past to draw conclusions about possible causal relationships between risk factors and outcomes. In these studies, researchers analyze existing records, medical charts, or previously collected data to test a hypothesis or answer a specific research question.

Retrospective studies can be useful for generating hypotheses and identifying trends, but they have limitations compared to prospective studies, which follow participants forward in time from exposure to outcome. Retrospective studies are subject to biases such as recall bias, selection bias, and information bias, which can affect the validity of the results. Therefore, retrospective studies should be interpreted with caution and used primarily to generate hypotheses for further testing in prospective studies.

Prevalence, in medical terms, refers to the total number of people in a given population who have a particular disease or condition at a specific point in time, or over a specified period. It is typically expressed as a percentage or a ratio of the number of cases to the size of the population. Prevalence differs from incidence, which measures the number of new cases that develop during a certain period.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

An intracranial aneurysm is a localized, blood-filled dilation or bulging in the wall of a cerebral artery within the skull (intracranial). These aneurysms typically occur at weak points in the arterial walls, often at branching points where the vessel divides into smaller branches. Over time, the repeated pressure from blood flow can cause the vessel wall to weaken and balloon out, forming a sac-like structure. Intracranial aneurysms can vary in size, ranging from a few millimeters to several centimeters in diameter.

There are three main types of intracranial aneurysms:

1. Saccular (berry) aneurysm: This is the most common type, characterized by a round or oval shape with a narrow neck and a bulging sac. They usually develop at branching points in the arteries due to congenital weaknesses in the vessel wall.
2. Fusiform aneurysm: These aneurysms have a dilated segment along the length of the artery, forming a cigar-shaped or spindle-like structure. They are often caused by atherosclerosis and can affect any part of the cerebral arteries.
3. Dissecting aneurysm: This type occurs when there is a tear in the inner lining (intima) of the artery, allowing blood to flow between the layers of the vessel wall. It can lead to narrowing or complete blockage of the affected artery and may cause subarachnoid hemorrhage if it ruptures.

Intracranial aneurysms can be asymptomatic and discovered incidentally during imaging studies for other conditions. However, when they grow larger or rupture, they can lead to severe complications such as subarachnoid hemorrhage, stroke, or even death. Treatment options include surgical clipping, endovascular coiling, or flow diversion techniques to prevent further growth and potential rupture of the aneurysm.

X-ray computed tomography (CT or CAT scan) is a medical imaging method that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional (tomographic) images (virtual "slices") of the body. These cross-sectional images can then be used to display detailed internal views of organs, bones, and soft tissues in the body.

The term "computed tomography" is used instead of "CT scan" or "CAT scan" because the machines take a series of X-ray measurements from different angles around the body and then use a computer to process these data to create detailed images of internal structures within the body.

CT scanning is a noninvasive, painless medical test that helps physicians diagnose and treat medical conditions. CT imaging provides detailed information about many types of tissue including lung, bone, soft tissue and blood vessels. CT examinations can be performed on every part of the body for a variety of reasons including diagnosis, surgical planning, and monitoring of therapeutic responses.

In computed tomography (CT), an X-ray source and detector rotate around the patient, measuring the X-ray attenuation at many different angles. A computer uses this data to construct a cross-sectional image by the process of reconstruction. This technique is called "tomography". The term "computed" refers to the use of a computer to reconstruct the images.

CT has become an important tool in medical imaging and diagnosis, allowing radiologists and other physicians to view detailed internal images of the body. It can help identify many different medical conditions including cancer, heart disease, lung nodules, liver tumors, and internal injuries from trauma. CT is also commonly used for guiding biopsies and other minimally invasive procedures.

In summary, X-ray computed tomography (CT or CAT scan) is a medical imaging technique that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional images of the body. It provides detailed internal views of organs, bones, and soft tissues in the body, allowing physicians to diagnose and treat medical conditions.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

Treatment outcome is a term used to describe the result or effect of medical treatment on a patient's health status. It can be measured in various ways, such as through symptoms improvement, disease remission, reduced disability, improved quality of life, or survival rates. The treatment outcome helps healthcare providers evaluate the effectiveness of a particular treatment plan and make informed decisions about future care. It is also used in clinical research to compare the efficacy of different treatments and improve patient care.

Cell polarity refers to the asymmetric distribution of membrane components, cytoskeleton, and organelles in a cell. This asymmetry is crucial for various cellular functions such as directed transport, cell division, and signal transduction. The plasma membrane of polarized cells exhibits distinct domains with unique protein and lipid compositions that define apical, basal, and lateral surfaces of the cell.

In epithelial cells, for example, the apical surface faces the lumen or external environment, while the basolateral surface interacts with other cells or the extracellular matrix. The establishment and maintenance of cell polarity are regulated by various factors including protein complexes, lipids, and small GTPases. Loss of cell polarity has been implicated in several diseases, including cancer and neurological disorders.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

The Renin-Angiotensin System (RAS) is a complex hormonal system that regulates blood pressure, fluid and electrolyte balance, and vascular resistance. It plays a crucial role in the pathophysiology of hypertension, heart failure, and kidney diseases.

Here's a brief overview of how it works:

1. Renin is an enzyme that is released by the juxtaglomerular cells in the kidneys in response to decreased blood pressure or reduced salt delivery to the distal tubules.
2. Renin acts on a protein called angiotensinogen, which is produced by the liver, converting it into angiotensin I.
3. Angiotensin-converting enzyme (ACE), found in the lungs and other tissues, then converts angiotensin I into angiotensin II, a potent vasoconstrictor that narrows blood vessels and increases blood pressure.
4. Angiotensin II also stimulates the release of aldosterone from the adrenal glands, which promotes sodium and water reabsorption in the kidneys, further increasing blood volume and blood pressure.
5. Additionally, angiotensin II has direct effects on the heart, promoting hypertrophy and remodeling, which can contribute to heart failure.
6. The RAS can be modulated by various medications, such as ACE inhibitors, angiotensin receptor blockers (ARBs), and aldosterone antagonists, which are commonly used to treat hypertension, heart failure, and kidney diseases.

A Severity of Illness Index is a measurement tool used in healthcare to assess the severity of a patient's condition and the risk of mortality or other adverse outcomes. These indices typically take into account various physiological and clinical variables, such as vital signs, laboratory values, and co-morbidities, to generate a score that reflects the patient's overall illness severity.

Examples of Severity of Illness Indices include the Acute Physiology and Chronic Health Evaluation (APACHE) system, the Simplified Acute Physiology Score (SAPS), and the Mortality Probability Model (MPM). These indices are often used in critical care settings to guide clinical decision-making, inform prognosis, and compare outcomes across different patient populations.

It is important to note that while these indices can provide valuable information about a patient's condition, they should not be used as the sole basis for clinical decision-making. Rather, they should be considered in conjunction with other factors, such as the patient's overall clinical presentation, treatment preferences, and goals of care.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Blood pressure is the force exerted by circulating blood on the walls of the blood vessels. It is measured in millimeters of mercury (mmHg) and is given as two figures:

1. Systolic pressure: This is the pressure when the heart pushes blood out into the arteries.
2. Diastolic pressure: This is the pressure when the heart rests between beats, allowing it to fill with blood.

Normal blood pressure for adults is typically around 120/80 mmHg, although this can vary slightly depending on age, sex, and other factors. High blood pressure (hypertension) is generally considered to be a reading of 130/80 mmHg or higher, while low blood pressure (hypotension) is usually defined as a reading below 90/60 mmHg. It's important to note that blood pressure can fluctuate throughout the day and may be affected by factors such as stress, physical activity, and medication use.

Epithelium is the tissue that covers the outer surface of the body, lines the internal cavities and organs, and forms various glands. It is composed of one or more layers of tightly packed cells that have a uniform shape and size, and rest on a basement membrane. Epithelial tissues are avascular, meaning they do not contain blood vessels, and are supplied with nutrients by diffusion from the underlying connective tissue.

Epithelial cells perform a variety of functions, including protection, secretion, absorption, excretion, and sensation. They can be classified based on their shape and the number of cell layers they contain. The main types of epithelium are:

1. Squamous epithelium: composed of flat, scalelike cells that fit together like tiles on a roof. It forms the lining of blood vessels, air sacs in the lungs, and the outermost layer of the skin.
2. Cuboidal epithelium: composed of cube-shaped cells with equal height and width. It is found in glands, tubules, and ducts.
3. Columnar epithelium: composed of tall, rectangular cells that are taller than they are wide. It lines the respiratory, digestive, and reproductive tracts.
4. Pseudostratified epithelium: appears stratified or layered but is actually made up of a single layer of cells that vary in height. The nuclei of these cells appear at different levels, giving the tissue a stratified appearance. It lines the respiratory and reproductive tracts.
5. Transitional epithelium: composed of several layers of cells that can stretch and change shape to accommodate changes in volume. It is found in the urinary bladder and ureters.

Epithelial tissue provides a barrier between the internal and external environments, protecting the body from physical, chemical, and biological damage. It also plays a crucial role in maintaining homeostasis by regulating the exchange of substances between the body and its environment.

Bile ducts are tubular structures that carry bile from the liver to the gallbladder for storage or directly to the small intestine to aid in digestion. There are two types of bile ducts: intrahepatic and extrahepatic. Intrahepatic bile ducts are located within the liver and drain bile from liver cells, while extrahepatic bile ducts are outside the liver and include the common hepatic duct, cystic duct, and common bile duct. These ducts can become obstructed or inflamed, leading to various medical conditions such as cholestasis, cholecystitis, and gallstones.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

Immunohistochemistry (IHC) is a technique used in pathology and laboratory medicine to identify specific proteins or antigens in tissue sections. It combines the principles of immunology and histology to detect the presence and location of these target molecules within cells and tissues. This technique utilizes antibodies that are specific to the protein or antigen of interest, which are then tagged with a detection system such as a chromogen or fluorophore. The stained tissue sections can be examined under a microscope, allowing for the visualization and analysis of the distribution and expression patterns of the target molecule in the context of the tissue architecture. Immunohistochemistry is widely used in diagnostic pathology to help identify various diseases, including cancer, infectious diseases, and immune-mediated disorders.

Blood Urea Nitrogen (BUN) is a laboratory value that measures the amount of urea nitrogen in the blood. Urea nitrogen is a waste product that is formed when proteins are broken down in the liver. The kidneys filter urea nitrogen from the blood and excrete it as urine.

A high BUN level may indicate impaired kidney function, as the kidneys are not effectively removing urea nitrogen from the blood. However, BUN levels can also be affected by other factors such as dehydration, heart failure, or gastrointestinal bleeding. Therefore, BUN should be interpreted in conjunction with other laboratory values and clinical findings.

The normal range for BUN is typically between 7-20 mg/dL (milligrams per deciliter) or 2.5-7.1 mmol/L (millimoles per liter), but the reference range may vary depending on the laboratory.

Sprague-Dawley rats are a strain of albino laboratory rats that are widely used in scientific research. They were first developed by researchers H.H. Sprague and R.C. Dawley in the early 20th century, and have since become one of the most commonly used rat strains in biomedical research due to their relatively large size, ease of handling, and consistent genetic background.

Sprague-Dawley rats are outbred, which means that they are genetically diverse and do not suffer from the same limitations as inbred strains, which can have reduced fertility and increased susceptibility to certain diseases. They are also characterized by their docile nature and low levels of aggression, making them easier to handle and study than some other rat strains.

These rats are used in a wide variety of research areas, including toxicology, pharmacology, nutrition, cancer, and behavioral studies. Because they are genetically diverse, Sprague-Dawley rats can be used to model a range of human diseases and conditions, making them an important tool in the development of new drugs and therapies.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

Anovulation is a medical condition in which there is a failure to ovulate, or release a mature egg from the ovaries, during a menstrual cycle. This can occur due to various reasons such as hormonal imbalances, polycystic ovary syndrome (PCOS), premature ovarian failure, excessive exercise, stress, low body weight, or certain medications. Anovulation is common in women with irregular menstrual cycles and can cause infertility if left untreated. In some cases, anovulation may be treated with medication to stimulate ovulation.

Renal blood flow (RBF) is the total volume of blood that flows through the kidneys per unit time. Effective renal plasma flow (ERPF) is the portion of the renal plasma flow that reaches and perfuses the functional units of the kidney, the nephrons. It is called "effective" because it is the fraction of the renal plasma flow that effectively takes part in the filtration process, ultimately forming urine. ERPF can be measured by determining the clearance of a substance that is freely filtered by the glomeruli and neither secreted nor absorbed by the tubules, such as para-aminohippuric acid (PAH). The normal ERPF in humans is approximately 625-675 mL/min per 1.73 m².

Body fluids refer to the various liquids that can be found within and circulating throughout the human body. These fluids include, but are not limited to:

1. Blood: A fluid that carries oxygen, nutrients, hormones, and waste products throughout the body via the cardiovascular system. It is composed of red and white blood cells suspended in plasma.
2. Lymph: A clear-to-white fluid that circulates through the lymphatic system, helping to remove waste products, bacteria, and damaged cells from tissues while also playing a crucial role in the immune system.
3. Interstitial fluid: Also known as tissue fluid or extracellular fluid, it is the fluid that surrounds the cells in the body's tissues, allowing for nutrient exchange and waste removal between cells and blood vessels.
4. Cerebrospinal fluid (CSF): A clear, colorless fluid that circulates around the brain and spinal cord, providing protection, cushioning, and nutrients to these delicate structures while also removing waste products.
5. Pleural fluid: A small amount of lubricating fluid found in the pleural space between the lungs and the chest wall, allowing for smooth movement during respiration.
6. Pericardial fluid: A small amount of lubricating fluid found within the pericardial sac surrounding the heart, reducing friction during heart contractions.
7. Synovial fluid: A viscous, lubricating fluid found in joint spaces, allowing for smooth movement and protecting the articular cartilage from wear and tear.
8. Urine: A waste product produced by the kidneys, consisting of water, urea, creatinine, and various ions, which is excreted through the urinary system.
9. Gastrointestinal secretions: Fluids produced by the digestive system, including saliva, gastric juice, bile, pancreatic juice, and intestinal secretions, which aid in digestion, absorption, and elimination of food particles.
10. Reproductive fluids: Secretions from the male (semen) and female (cervical mucus, vaginal lubrication) reproductive systems that facilitate fertilization and reproduction.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

Biological models, also known as physiological models or organismal models, are simplified representations of biological systems, processes, or mechanisms that are used to understand and explain the underlying principles and relationships. These models can be theoretical (conceptual or mathematical) or physical (such as anatomical models, cell cultures, or animal models). They are widely used in biomedical research to study various phenomena, including disease pathophysiology, drug action, and therapeutic interventions.

Examples of biological models include:

1. Mathematical models: These use mathematical equations and formulas to describe complex biological systems or processes, such as population dynamics, metabolic pathways, or gene regulation networks. They can help predict the behavior of these systems under different conditions and test hypotheses about their underlying mechanisms.
2. Cell cultures: These are collections of cells grown in a controlled environment, typically in a laboratory dish or flask. They can be used to study cellular processes, such as signal transduction, gene expression, or metabolism, and to test the effects of drugs or other treatments on these processes.
3. Animal models: These are living organisms, usually vertebrates like mice, rats, or non-human primates, that are used to study various aspects of human biology and disease. They can provide valuable insights into the pathophysiology of diseases, the mechanisms of drug action, and the safety and efficacy of new therapies.
4. Anatomical models: These are physical representations of biological structures or systems, such as plastic models of organs or tissues, that can be used for educational purposes or to plan surgical procedures. They can also serve as a basis for developing more sophisticated models, such as computer simulations or 3D-printed replicas.

Overall, biological models play a crucial role in advancing our understanding of biology and medicine, helping to identify new targets for therapeutic intervention, develop novel drugs and treatments, and improve human health.

Sodium-Potassium-Exchanging ATPase (also known as Na+/K+ ATPase) is a type of active transporter found in the cell membrane of many types of cells. It plays a crucial role in maintaining the electrochemical gradient and membrane potential of animal cells by pumping sodium ions (Na+) out of the cell and potassium ions (K+) into the cell, using energy derived from ATP hydrolysis.

This transporter is composed of two main subunits: a catalytic α-subunit that contains the binding sites for Na+, K+, and ATP, and a regulatory β-subunit that helps in the proper targeting and functioning of the pump. The Na+/K+ ATPase plays a critical role in various physiological processes, including nerve impulse transmission, muscle contraction, and kidney function.

In summary, Sodium-Potassium-Exchanging ATPase is an essential membrane protein that uses energy from ATP to transport sodium and potassium ions across the cell membrane, thereby maintaining ionic gradients and membrane potentials necessary for normal cellular function.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

Sirolimus is a medication that belongs to a class of drugs called immunosuppressants. It is also known as rapamycin. Sirolimus works by inhibiting the mammalian target of rapamycin (mTOR), which is a protein that plays a key role in cell growth and division.

Sirolimus is primarily used to prevent rejection of transplanted organs, such as kidneys, livers, and hearts. It works by suppressing the activity of the immune system, which can help to reduce the risk of the body rejecting the transplanted organ. Sirolimus is often used in combination with other immunosuppressive drugs, such as corticosteroids and calcineurin inhibitors.

Sirolimus is also being studied for its potential therapeutic benefits in a variety of other conditions, including cancer, tuberous sclerosis complex, and lymphangioleiomyomatosis. However, more research is needed to fully understand the safety and efficacy of sirolimus in these contexts.

It's important to note that sirolimus can have significant side effects, including increased risk of infections, mouth sores, high blood pressure, and kidney damage. Therefore, it should only be used under the close supervision of a healthcare provider.

Nephrology is a branch of medicine that deals with the study and treatment of kidney diseases. A nephrologist is a medical specialist who specializes in the diagnosis, management, and treatment of various kidney-related disorders such as chronic kidney disease (CKD), acute renal failure, glomerulonephritis, hypertension, kidney stones, electrolyte imbalances, and inherited kidney diseases. They also provide care for patients who require dialysis or transplantation due to end-stage renal disease (ESRD). Nephrologists work closely with other healthcare professionals including primary care physicians, surgeons, radiologists, and pathologists to develop individualized treatment plans for their patients.

The liver is a large, solid organ located in the upper right portion of the abdomen, beneath the diaphragm and above the stomach. It plays a vital role in several bodily functions, including:

1. Metabolism: The liver helps to metabolize carbohydrates, fats, and proteins from the food we eat into energy and nutrients that our bodies can use.
2. Detoxification: The liver detoxifies harmful substances in the body by breaking them down into less toxic forms or excreting them through bile.
3. Synthesis: The liver synthesizes important proteins, such as albumin and clotting factors, that are necessary for proper bodily function.
4. Storage: The liver stores glucose, vitamins, and minerals that can be released when the body needs them.
5. Bile production: The liver produces bile, a digestive juice that helps to break down fats in the small intestine.
6. Immune function: The liver plays a role in the immune system by filtering out bacteria and other harmful substances from the blood.

Overall, the liver is an essential organ that plays a critical role in maintaining overall health and well-being.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Renal circulation refers to the blood flow specifically dedicated to the kidneys. The main function of the kidneys is to filter waste and excess fluids from the blood, which then get excreted as urine. To perform this function efficiently, the kidneys receive a substantial amount of the body's total blood supply - about 20-25% in a resting state.

The renal circulation process begins when deoxygenated blood from the rest of the body returns to the right side of the heart and is pumped into the lungs for oxygenation. Oxygen-rich blood then leaves the left side of the heart through the aorta, the largest artery in the body.

A portion of this oxygen-rich blood moves into the renal arteries, which branch directly from the aorta and supply each kidney with blood. Within the kidneys, these arteries divide further into smaller vessels called afferent arterioles, which feed into a network of tiny capillaries called the glomerulus within each nephron (the functional unit of the kidney).

The filtration process occurs in the glomeruli, where waste materials and excess fluids are separated from the blood. The resulting filtrate then moves through another set of capillaries, the peritubular capillaries, which surround the renal tubules (the part of the nephron that reabsorbs necessary substances back into the bloodstream).

The now-deoxygenated blood from the kidneys' capillary network coalesces into venules and then merges into the renal veins, which ultimately drain into the inferior vena cava and return the blood to the right side of the heart. This highly specialized circulation system allows the kidneys to efficiently filter waste while maintaining appropriate blood volume and composition.

Human chromosome pair 4 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical or very similar in length and gene content. Chromosomes are made up of DNA, which contains genetic information, and proteins that package and organize the DNA.

Human chromosomes are numbered from 1 to 22, with chromosome pair 4 being one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome pair 4 is a medium-sized pair and contains an estimated 1,800-2,000 genes. These genes provide instructions for making proteins that are essential for various functions in the body, such as development, growth, and metabolism.

Abnormalities in chromosome pair 4 can lead to genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion of part of the short arm of chromosome 4, and 4p16.3 microdeletion syndrome, which is caused by a deletion of a specific region on the short arm of chromosome 4. These conditions can result in developmental delays, intellectual disability, physical abnormalities, and other health problems.

Metformin is a type of biguanide antihyperglycemic agent used primarily in the treatment of type 2 diabetes mellitus. It works by decreasing glucose production in the liver, reducing glucose absorption in the gut, and increasing insulin sensitivity in muscle and fat tissue. By lowering both basal and postprandial plasma glucose levels, metformin helps to control blood sugar levels and improve glycemic control. It is also used off-label for various other indications such as polycystic ovary syndrome (PCOS) and gestational diabetes. Common side effects include diarrhea, nausea, vomiting, and abdominal discomfort. Lactic acidosis is a rare but serious side effect that requires immediate medical attention.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

Follow-up studies are a type of longitudinal research that involve repeated observations or measurements of the same variables over a period of time, in order to understand their long-term effects or outcomes. In medical context, follow-up studies are often used to evaluate the safety and efficacy of medical treatments, interventions, or procedures.

In a typical follow-up study, a group of individuals (called a cohort) who have received a particular treatment or intervention are identified and then followed over time through periodic assessments or data collection. The data collected may include information on clinical outcomes, adverse events, changes in symptoms or functional status, and other relevant measures.

The results of follow-up studies can provide important insights into the long-term benefits and risks of medical interventions, as well as help to identify factors that may influence treatment effectiveness or patient outcomes. However, it is important to note that follow-up studies can be subject to various biases and limitations, such as loss to follow-up, recall bias, and changes in clinical practice over time, which must be carefully considered when interpreting the results.

Diabetic nephropathy is a kidney disease that occurs as a complication of diabetes. It is also known as diabetic kidney disease (DKD). This condition affects the ability of the kidneys to filter waste and excess fluids from the blood, leading to their accumulation in the body.

Diabetic nephropathy is caused by damage to the small blood vessels in the kidneys, which can occur over time due to high levels of glucose in the blood. This damage can lead to scarring and thickening of the kidney's filtering membranes, reducing their ability to function properly.

Symptoms of diabetic nephropathy may include proteinuria (the presence of protein in the urine), edema (swelling in the legs, ankles, or feet due to fluid retention), and hypertension (high blood pressure). Over time, if left untreated, diabetic nephropathy can progress to end-stage kidney disease, which requires dialysis or a kidney transplant.

Preventing or delaying the onset of diabetic nephropathy involves maintaining good control of blood sugar levels, keeping blood pressure under control, and making lifestyle changes such as quitting smoking, eating a healthy diet, and getting regular exercise. Regular monitoring of kidney function through urine tests and blood tests is also important for early detection and treatment of this condition.

Prospective studies, also known as longitudinal studies, are a type of cohort study in which data is collected forward in time, following a group of individuals who share a common characteristic or exposure over a period of time. The researchers clearly define the study population and exposure of interest at the beginning of the study and follow up with the participants to determine the outcomes that develop over time. This type of study design allows for the investigation of causal relationships between exposures and outcomes, as well as the identification of risk factors and the estimation of disease incidence rates. Prospective studies are particularly useful in epidemiology and medical research when studying diseases with long latency periods or rare outcomes.

A cohort study is a type of observational study in which a group of individuals who share a common characteristic or exposure are followed up over time to determine the incidence of a specific outcome or outcomes. The cohort, or group, is defined based on the exposure status (e.g., exposed vs. unexposed) and then monitored prospectively to assess for the development of new health events or conditions.

Cohort studies can be either prospective or retrospective in design. In a prospective cohort study, participants are enrolled and followed forward in time from the beginning of the study. In contrast, in a retrospective cohort study, researchers identify a cohort that has already been assembled through medical records, insurance claims, or other sources and then look back in time to assess exposure status and health outcomes.

Cohort studies are useful for establishing causality between an exposure and an outcome because they allow researchers to observe the temporal relationship between the two. They can also provide information on the incidence of a disease or condition in different populations, which can be used to inform public health policy and interventions. However, cohort studies can be expensive and time-consuming to conduct, and they may be subject to bias if participants are not representative of the population or if there is loss to follow-up.

A LOD (Logarithm of Odds) score is not a medical term per se, but rather a statistical concept that is used in genetic research and linkage analysis to determine the likelihood of a gene or genetic marker being linked to a particular disease or trait. The LOD score compares the odds of observing the pattern of inheritance of a genetic marker in a family if the marker is linked to the disease, versus the odds if the marker is not linked. A LOD score of 3 or higher is generally considered evidence for linkage, while a score of -2 or lower is considered evidence against linkage.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Enalapril is a medication that belongs to a class of drugs called angiotensin-converting enzyme (ACE) inhibitors. It works by blocking the action of a hormone in the body called angiotensin II, which causes blood vessels to narrow and tighten. By blocking this hormone, Enalapril helps relax and widen blood vessels, making it easier for the heart to pump blood and reducing the workload on the heart.

Enalapril is commonly used to treat high blood pressure (hypertension), congestive heart failure, and to improve survival after a heart attack. It may also be used to treat other conditions as determined by your doctor.

The medication comes in the form of tablets or capsules that are taken orally, usually once or twice a day with or without food. The dosage will depend on various factors such as the patient's age, weight, and medical condition. It is important to follow the instructions of your healthcare provider when taking Enalapril.

Like all medications, Enalapril can cause side effects, including dry cough, dizziness, headache, fatigue, and nausea. More serious side effects may include allergic reactions, kidney problems, and low blood pressure. If you experience any concerning symptoms while taking Enalapril, it is important to contact your healthcare provider right away.

Cyclic adenosine monophosphate (cAMP) is a key secondary messenger in many biological processes, including the regulation of metabolism, gene expression, and cellular excitability. It is synthesized from adenosine triphosphate (ATP) by the enzyme adenylyl cyclase and is degraded by the enzyme phosphodiesterase.

In the body, cAMP plays a crucial role in mediating the effects of hormones and neurotransmitters on target cells. For example, when a hormone binds to its receptor on the surface of a cell, it can activate a G protein, which in turn activates adenylyl cyclase to produce cAMP. The increased levels of cAMP then activate various effector proteins, such as protein kinases, which go on to regulate various cellular processes.

Overall, the regulation of cAMP levels is critical for maintaining proper cellular function and homeostasis, and abnormalities in cAMP signaling have been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

Ultrasonography, also known as sonography, is a diagnostic medical procedure that uses high-frequency sound waves (ultrasound) to produce dynamic images of organs, tissues, or blood flow inside the body. These images are captured in real-time and can be used to assess the size, shape, and structure of various internal structures, as well as detect any abnormalities such as tumors, cysts, or inflammation.

During an ultrasonography procedure, a small handheld device called a transducer is placed on the patient's skin, which emits and receives sound waves. The transducer sends high-frequency sound waves into the body, and these waves bounce back off internal structures and are recorded by the transducer. The recorded data is then processed and transformed into visual images that can be interpreted by a medical professional.

Ultrasonography is a non-invasive, painless, and safe procedure that does not use radiation like other imaging techniques such as CT scans or X-rays. It is commonly used to diagnose and monitor conditions in various parts of the body, including the abdomen, pelvis, heart, blood vessels, and musculoskeletal system.

Antihypertensive agents are a class of medications used to treat high blood pressure (hypertension). They work by reducing the force and rate of heart contractions, dilating blood vessels, or altering neurohormonal activation to lower blood pressure. Examples include diuretics, beta blockers, ACE inhibitors, ARBs, calcium channel blockers, and direct vasodilators. These medications may be used alone or in combination to achieve optimal blood pressure control.

Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.

Western blotting is a laboratory technique used in molecular biology to detect and quantify specific proteins in a mixture of many different proteins. This technique is commonly used to confirm the expression of a protein of interest, determine its size, and investigate its post-translational modifications. The name "Western" blotting distinguishes this technique from Southern blotting (for DNA) and Northern blotting (for RNA).

The Western blotting procedure involves several steps:

1. Protein extraction: The sample containing the proteins of interest is first extracted, often by breaking open cells or tissues and using a buffer to extract the proteins.
2. Separation of proteins by electrophoresis: The extracted proteins are then separated based on their size by loading them onto a polyacrylamide gel and running an electric current through the gel (a process called sodium dodecyl sulfate-polyacrylamide gel electrophoresis or SDS-PAGE). This separates the proteins according to their molecular weight, with smaller proteins migrating faster than larger ones.
3. Transfer of proteins to a membrane: After separation, the proteins are transferred from the gel onto a nitrocellulose or polyvinylidene fluoride (PVDF) membrane using an electric current in a process called blotting. This creates a replica of the protein pattern on the gel but now immobilized on the membrane for further analysis.
4. Blocking: The membrane is then blocked with a blocking agent, such as non-fat dry milk or bovine serum albumin (BSA), to prevent non-specific binding of antibodies in subsequent steps.
5. Primary antibody incubation: A primary antibody that specifically recognizes the protein of interest is added and allowed to bind to its target protein on the membrane. This step may be performed at room temperature or 4°C overnight, depending on the antibody's properties.
6. Washing: The membrane is washed with a buffer to remove unbound primary antibodies.
7. Secondary antibody incubation: A secondary antibody that recognizes the primary antibody (often coupled to an enzyme or fluorophore) is added and allowed to bind to the primary antibody. This step may involve using a horseradish peroxidase (HRP)-conjugated or alkaline phosphatase (AP)-conjugated secondary antibody, depending on the detection method used later.
8. Washing: The membrane is washed again to remove unbound secondary antibodies.
9. Detection: A detection reagent is added to visualize the protein of interest by detecting the signal generated from the enzyme-conjugated or fluorophore-conjugated secondary antibody. This can be done using chemiluminescent, colorimetric, or fluorescent methods.
10. Analysis: The resulting image is analyzed to determine the presence and quantity of the protein of interest in the sample.

Western blotting is a powerful technique for identifying and quantifying specific proteins within complex mixtures. It can be used to study protein expression, post-translational modifications, protein-protein interactions, and more. However, it requires careful optimization and validation to ensure accurate and reproducible results.

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is a protein that functions as a chloride channel in the membranes of various cells, including those in the lungs and pancreas. Mutations in the gene encoding CFTR can lead to Cystic Fibrosis, a genetic disorder characterized by thick, sticky mucus in the lungs and other organs, leading to severe respiratory and digestive problems.

CFTR is normally activated by cyclic AMP-dependent protein kinase (PKA) and regulates the movement of chloride ions across cell membranes. In Cystic Fibrosis, mutations in CFTR can result in impaired channel function or reduced amounts of functional CFTR at the cell surface, leading to an imbalance in ion transport and fluid homeostasis. This can cause the production of thick, sticky mucus that clogs the airways and leads to chronic lung infections, as well as other symptoms associated with Cystic Fibrosis.

A pancreatic cyst is a fluid-filled sac that forms in the pancreas, a gland located behind the stomach that produces enzymes to help with digestion and hormones to regulate blood sugar levels. Pancreatic cysts can be classified into several types, including congenital (present at birth), retention (formed due to blockage of pancreatic ducts), and pseudocysts (formed as a result of injury or inflammation).

While some pancreatic cysts may not cause any symptoms, others can lead to abdominal pain, bloating, nausea, vomiting, or jaundice. Some cysts may also have the potential to become cancerous over time. Therefore, it is essential to monitor and evaluate pancreatic cysts through imaging tests such as ultrasound, CT scan, or MRI, and in some cases, endoscopic ultrasound (EUS) with fine-needle aspiration (FNA) may be necessary for further evaluation.

Treatment options for pancreatic cysts depend on the type, size, location, and symptoms of the cyst, as well as the patient's overall health condition. Some cysts may require surgical removal, while others can be managed with regular monitoring and follow-up care. It is essential to consult a healthcare provider for proper evaluation and management of pancreatic cysts.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

Vasopressin, also known as antidiuretic hormone (ADH), is a hormone that helps regulate water balance in the body. It is produced by the hypothalamus and stored in the posterior pituitary gland. When the body is dehydrated or experiencing low blood pressure, vasopressin is released into the bloodstream, where it causes the kidneys to decrease the amount of urine they produce and helps to constrict blood vessels, thereby increasing blood pressure. This helps to maintain adequate fluid volume in the body and ensure that vital organs receive an adequate supply of oxygen-rich blood. In addition to its role in water balance and blood pressure regulation, vasopressin also plays a role in social behaviors such as pair bonding and trust.

Autosomal recessive polycystic kidney disease "Polycystic kidney disease". MedlinePlus Medical Encyclopedia. Retrieved 2015-07- ... and autosomal recessive polycystic kidney disease (ARPKD). Autosomal dominant polycystic kidney disease (ADPKD) is the most ... autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The abnormal ... Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal ...
February 2008). "Variation in age at ESRD in autosomal dominant polycystic kidney disease". American Journal of Kidney Diseases ... Adult polycystic kidney Diagram of autosomal dominant polycystic disease with a normal kidney inset for comparison Abdominal CT ... "Polycystic Kidney Disease". National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). U.S. Department of Health ... "Management of ESRD in patients with autosomal dominant polycystic kidney disease". Advances in Chronic Kidney Disease. 17 (2): ...
... (ARPKD) is the recessive form of polycystic kidney disease. It is associated with ... Sweeney, William (1993). "Polycystic Kidney Disease, Autosomal Recessive". Polycystic kidney Disease. PMID 20301501. Retrieved ... "Polycystic kidney disease". Genetics Home Reference. Retrieved 2015-07-28. "Imaging in Autosomal Recessive Polycystic Kidney ... polycystic kidney disease Diffuse cystic dysplasia The treatment options for autosomal recessive polycystic kidney disease, ...
... is a protein that in humans is encoded by the PKD3 gene. Polycystic kidney ... It is known as 'polycystic kidneys'. Polycystic kidney disease (PKD3) is an autosomal dominant inheritance that leads to renal ... "Entrez Gene: Polycystic kidney disease 3 (autosomal dominant)". Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer ... In an analysis of 20 patients from 9 unrelated families develop polycystic kidney disease with heterozygous mutations in the ...
"Polycystic kidney disease , International Cat Care". icatcare.org. Retrieved 2016-07-08. "Polycystic Kidney Disease". www.vet. ... There may also be other deleterious effects besides those caused by recessive diseases. Thus, similar immune systems may be ... Moreover, there is an increased risk for congenital heart disease depending on the inbreeding coefficient (See coefficient of ... Viable inbred offspring are also likely to be inflicted with physical deformities and genetically inherited diseases. Studies ...
Polycystic kidney disease. Atrial fibrillation Abnormalities in the function of MS channels can cause: Neuronal disease ... The DEG/ENaC family consists of two subgroups: the ENaC subfamily regulates Na+ reabsorption in kidney and lung epithelia; the ... Mutations in piezo2 are associated with a human disease named Distal Arthrogryposis. MS channels are ubiquitously expressed in ... They are shown to be associated with many cardiovascular diseases. Stretch-activated channels were first observed in chick ...
He chose the PKD Foundation, an organization dedicated to fighting polycystic kidney disease (PKD), which he attributed to his ... "Polycystic kidney disease , PKD Foundation". PKD Foundation. Retrieved March 5, 2017. Wallace, Lewis (December 31, 2008). " ... DeFranco has polycystic kidney disease which he inherited from his father and grandfather. He has a younger sister named ...
"Polycystic Kidney Disease". Mayo Clinic. Mayo Foundation for Medical Education and Research. Retrieved 18 November 2016. Aledo- ... For example, people with a family history of polycystic kidney disease (PKD) who experience pain or tenderness in their abdomen ... Apart from rare diseases that are directly caused by specific, single-gene mutation, diseases "have complicated, multiple ... The results of a diagnostic test can influence a person's choices about health care and the management of the disease. ...
"Polycystic kidney disease , PKD Foundation". PKD Foundation. Retrieved 2018-11-28. "2013 Walk to Cure Psoriasis - National ... "The Kidney Foundation of Canada - The Kidney Foundation of Canada , La Fondation canadienne du rein". www.kidney.ca. Retrieved ... This list of health related charity fundraisers includes events designed to raise funds to fight disease and improve health. ...
"Polycystic Kidney Disease (PKD)". Scottishfold.org. Retrieved 3 October 2009. Shirley Little. "Cardiomyopathy". Scottishfold. ... Scottish folds are susceptible to polycystic kidney disease (PKD) and cardiomyopathy. Scottish folds are also prone to ... Fold cats therefore have malformed bone structures and can develop severe painful degenerative joint diseases at an early age. ... Homozygous Folds are affected by malformed bone structures and develop severe painful degenerative joint diseases at an early ...
Swanson, Kate (2021-09-07). "Autosomal recessive polycystic kidney disease". American Journal of Obstetrics and Gynecology. ... sickle cell disease, Tay-Sachs disease, Niemann-Pick disease, spinal muscular atrophy, and Roberts syndrome. Certain other ... The opposite of a hereditary disease is an acquired disease. Most cancers, although they involve genetic mutations to a small ... polygenic diseases do tend to "run in families", but the inheritance does not fit simple patterns as with Mendelian diseases. ...
and in polycystic kidney disease. XL844 is an inhibitor of protein kinases Chk1 and Chk2 and may increase the sensitivity of ... KD025 in specific fibrotic and neurodegenerative diseases and tesevatinib to treat autosomal dominant polycystic kidney disease ... Pharmacokinetic and Dose-Escalation Study of KD019 in Subjects With Autosomal Dominant Polycystic Kidney Disease" at ... These compounds include SLx-2119 (KD025), an inhibitor to Rho kinase 2 (ROCK2) with possible potential in fibrotic disease and ...
Welder had polycystic kidney disease; she received two transplants, in 2001 and in 2011. She died in Bismarck, North Dakota, on ... Her father died of a kidney condition in 1951; her mother became a Benedictine sister in 1968, after raising Welder and her ... Eckroth, Leann (April 4, 2011). "Sister Thomas Welder gets kidney transplant". The Bismarck Tribune. Retrieved September 18, ... June 22, 2020, after having been diagnosed with kidney cancer. The state governor, Doug Burgum, and the senator John Hoeven ...
Polycystic kidney disease (PKD) is a feline heredity disease, which is highly prevalent in the Persian cat gene pool. The ... "Polycystic Kidney Disease in Cats". VCA Animal Hospitals. Retrieved 2023-03-22. Rodney, Alana R.; Buckley, Reuben M.; Fulton, ... Jasik, Agnieszka; Kulesza, Marek (2014). "Polycystic kidney disease in a Neva Masquerade cat". Journal of Small Animal Practice ... and feline hereditary diseases. Research on the body language and vocalisation of the two sister breeds showed that Neva ...
Feline polycystic kidney disease (PKD). Exotic Shorthairs, as well as Persians and other Persian-derived cats, have a high ... Barthez, P. Y.; Rivier, P.; Begon, D. (2003). "Prevalence of polycystic kidney disease in Persian and Persian related cats in ... Beck, C.; Lavelle, R. B. (2001). "Feline polycystic kidney disease in Persian and other cats: A prospective study using ... "Prevalence of the polycystic kidney disease and renal and urinary bladder ultrasonographic abnormalities in Persian and Exotic ...
"Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease ... "Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)". GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease ... Mutations of PKD1 are associated with most cases of autosomal dominant polycystic kidney disease, a severe hereditary disorder ... Torres VE, Harris PC, Pirson Y (April 2007). "Autosomal dominant polycystic kidney disease". Lancet. 369 (9569): 1287-301. doi: ...
"UK Polycystic Kidney Disease Charity Website". Pkdcharity.org.uk. Archived from the original on 25 December 2010. Retrieved 21 ... Cable is a patron of MyBigCareer, a career guidance charity for young people, the Polycystic Kidney Disease Charity (PKD), the ... After apparently successful treatment, the disease returned in the mid-1990s and before the 1997 general election. She died ...
Polycystic kidney disease This disease forms a cyst in the cat's kidney, causing organ failure. Polycystic kidney disease can ... The breed is thought to be at high risk of polycystic kidney disease (PKD). A DNA test lab has noted a significant decrease of ... "Polycystic kidney disease (PKD): Gene test and negative register". International Cat Care. Archived from the original on 2 ... "PKD - Polycystic Kidney Disease - British Shorthair". Antagene. Archived from the original on 17 August 2018. Retrieved 2 ...
"A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene". Kidney ... "TRPP2 and autosomal dominant polycystic kidney disease". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1772 ... "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)". Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP ( ... Mutations in this gene have been associated with autosomal dominant polycystic kidney disease. Polycystin 2 has been shown to ...
Numerous renal cysts are seen in the cystic kidney diseases, which include polycystic kidney disease and medullary sponge ... Advanced polycystic kidney disease with multiple cysts. Renal cyst as seen on abdominal ultrasound Renal cyst as seen on ... of their walls visible outside the kidney (otherwise category II). Category IIF cysts have a 5-10% risk of being kidney cancer ... A renal cyst is a fluid collection in or on the kidney. There are several types based on the Bosniak classification. The ...
... in the serum of individuals with polycystic kidney disease. or chronic pancreatitis, and in the plasma of individuals with ... HODE markers may find usefulness as markers of specific disease, type of disease, and/or progression of disease when combined ... "Bioactive lipid mediators in polycystic kidney disease". Journal of Lipid Research. 55 (6): 1139-49. doi:10.1194/jlr.P042176. ... are markers of various human diseases, and/or contribute to the progression of certain diseases in humans. Since, however, many ...
His cousin suffered from Polycystic kidney disease. He currently lives in Fishers, Indiana, with his wife Kathy and his ... In 2007, Knurek became an organ donor when he donated a kidney to a family member. Knurek and his cousin underwent the ...
Polycystic Kidney Disease and Other Inherited Tubular Disorders". Harrison's Principles of Internal Medicine (18th ed.). New ... in patients with kidney stones. The disease is bilateral in 70% of cases.[citation needed] "Medullary Sponge Kidney". Archived ... Medullary sponge kidney is a congenital disorder of the kidneys characterized by cystic dilatation of the collecting tubules in ... Individuals with medullary sponge kidney are at increased risk for kidney stones and urinary tract infection (UTI). Patients ...
"Intracranial cysts in autosomal dominant polycystic kidney disease". J. Neurosurg. 83 (6): 1004-7. doi:10.3171/jns.1995.83. ... a condition often associated with Alzheimer's disease In elderly patients (>80 years old) symptoms were similar to chronic ... Dementia Urinary incontinence Hemiparesis Headache Seizures A supratentorial arachnoid cyst can mimic a Ménière's disease ... "Supratentorial arachnoid cyst mimicking a Ménière's disease attack". J Laryngol Otol. 117 (9): 728-30. doi:10.1258/ ...
... and feline hereditary diseases, such as polycystic kidney disease (PKD). The prevalence of PKD in the Neva Masquerade gene pool ... Jasik, Agnieszka; Kulesza, Marek (2014). "Polycystic kidney disease in a Neva Masquerade cat". Journal of Small Animal Practice ... In a study with almost 550 000 cats of 18 breeds, the disease risks of the different cat breeds were evaluated based on 24 ... disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats". PLOS Genetics. 18 (6): e1009804. ...
The Polycystic Kidney Disease (PKD) Consortium evaluates the evidence supporting total kidney volume (TKV) as a biomarker for ... "Mayo Clinic Translational Polycystic Kidney Disease (PKD) Center;" "Building a Drug Development Machine." Archived 2011-01-16 ... The Huntington's Disease Regulatory Science Consortium (HD-RSC) aims to accelerate the regulatory approval of Huntington's ... The Critical Path for Alzheimer's Disease (CPAD) aims to increase the efficiency of the development process of new treatments ...
He was subsequently diagnosed with polycystic kidney disease. On July 27, 2011, he was traded back to the Toronto Blue Jays ... Goold, Derrick (July 11, 2011). "Tallet learns he has kidney disease". St. Louis Post-Dispatch. Archived from the original on ... they saw past the rib cage and discovered that he also had cysts clinging to his kidneys. ...
Polycystic kidney disease 2-like 1 protein also known as transient receptor potential polycystic 2 (TRPP2; formerly TRPP3) is a ... a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects". J. ... "Entrez Gene: PKD2L1 polycystic kidney disease 2-like 1". Li Q, Liu Y, Shen PY, Dai XQ, Wang S, Smillie LB, Sandford R, Chen XZ ... Guo L, Chen M, Basora N, Zhou J (2000). "The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and ...
... such as polycystic kidney disease, congenital heart disease, mitral valve prolapse, and retinal degeneration, called ... In addition, a defect of the primary cilium in the renal tubule cells can lead to polycystic kidney disease (PKD). In another ... Orpk mouse model of polycystic kidney disease reveals essential role of pri- mary cilia in pancreatic tissue organization. ... Wagner CA (2008). "News from the cyst: insights into polycystic kidney disease". Journal of Nephrology. 21 (1): 14-16. PMID ...
Cause of death was complications resulting from polycystic kidney disease. "If you can't grow on Deca and Dbol, you can't grow ...
"Polycystic kidney disease , International Cat Care". icatcare.org. Retrieved July 8, 2016. "Polycystic Kidney Disease". www.vet ... Polycystic kidney disease (PKD) which causes kidney failure in affected adult cats has an incidence rate of 36-49% in the ... are especially prone to autosomal dominant polycystic kidney disease (ADPKD). Cysts develop and grow in the kidney over time, ... Hereditary polycystic kidney disease (PKD) is prevalent in the breed, affecting almost half of the population in some countries ...
Autosomal recessive polycystic kidney disease "Polycystic kidney disease". MedlinePlus Medical Encyclopedia. Retrieved 2015-07- ... and autosomal recessive polycystic kidney disease (ARPKD). Autosomal dominant polycystic kidney disease (ADPKD) is the most ... autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The abnormal ... Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal ...
... are kidney cysts that enlarge kidneys and make them work poorly, leading to kidney failure. Learn about PKD symptoms ... Medullary Sponge Kidney (National Kidney and Urologic Diseases Information Clearinghouse) * Polycystic Kidney Disease (PKD) ( ... ClinicalTrials.gov: Kidney Diseases, Cystic (National Institutes of Health) * ClinicalTrials.gov: Polycystic Kidney Diseases ( ... Autosomal dominant tubulointerstitial kidney disease (Medical Encyclopedia) Also in Spanish * Polycystic kidney disease ( ...
Learn about causes and signs of polycystic kidney disease (PKD). The sooner you know you have PKD, the sooner you can keep your ... Polycystic kidney disease (PKD) is a genetic disorder that causes many fluid-filled cysts to grow in your kidneys. Unlike the ... Polycystic kidney disease is a genetic disorder that causes many fluid-filled cysts to grow in your kidneys. ... PKD is a form of chronic kidney disease (CKD) that reduces kidney function and may lead to kidney failure. PKD also can cause ...
... is a multisystemic and progressive disorder characterized by cyst formation and enlargement in the kidney (see the image below ... encoded search term (Polycystic Kidney Disease) and Polycystic Kidney Disease What to Read Next on Medscape ... autosomal dominant polycystic kidney disease (ADPKD; see the image below) and autosomal recessive polycystic kidney disease ( ... Estimation of total kidney volume in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2015 Nov. 66 (5):792-801. [ ...
... genetic disease in which fluid-filled cysts grow in the kidneys, leading to kidney failure. Learn more. ... Pediatric Polycystic Kidney Disease (PKD). Polycystic kidney disease (PKD) is a rare, genetic disease that causes damage to the ... What is Pediatric Polycystic Kidney Disease (PKD)?. Polycystic kidney disease (PKD) is a rare disease in which fluid-filled ... What are the causes of Pediatric Polycystic Kidney Disease (PKD)?. Autosomal dominant PKD is caused by a gene defect that is ...
Learn how treatments and lifestyle changes might help reduce damage to your kidneys from polycystic kidney disease. ... Polycystic kidney Enlarge image Close Polycystic kidney. Polycystic kidney. A healthy kidney (left) eliminates waste from the ... Polycystic kidney disease. American Kidney Fund. https://www.kidneyfund.org/kidney-disease/other-kidney-conditions/polycystic- ... may develop in people with polycystic kidney disease.. Prevention. If you have polycystic kidney disease and youre considering ...
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.. Edits to original content made by Denver Health. Copyright © EBSCO Information ...
polycystic kidney disease. polycystic kidney disease. Sorry, no results found.. We tried our best, but we couldnt find any ... Image of the Day: Kidney Lymphatics. Single-cell-resolution imaging offers a glimpse into lymphatic vessel formation in the ... Image of the Day: Kidney Lymphatics. Single-cell-resolution imaging offers a glimpse into lymphatic vessel formation in the ... polycystic kidney disease ...
The disease causes the formation of fluid-filled cysts in the kidneys that can lead to kidney failure. ... is the most common inherited disease in cats. ... Polycystic Kidney Disease (PKD). Polycystic Kidney Disease (PKD ... Polycystic Kidney Disease (PKD), also named autosomal dominant PKD, is characterized by variously sized, fluid-filled cysts in ... There is no treatment specific for feline polycystic kidney disease. As the symptoms are similar to patients with feline ...
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations to PKD1 or PKD2, triggering progressive ... Recent patient data suggest that the disease is dosage dependent, where incompletely penetrant alleles influence disease ... Here, we have developed a knockin mouse model matching a likely disease variant, PKD1 p.R3277C (RC), and have proved that its ... Altogether, this study highlights the role that in trans variants at the disease locus can play in phenotypic modification of ...
Stanford Medicine Childrens Health Detailed information on the different types of polycystic kidney disease ... Polycystic Kidney Disease. What is polycystic kidney disease (PKD)?. Polycystic kidney disease (PKD) is a rare genetic disorder ... It used to be called adult polycystic kidney disease. Usually, at least one parent must have the disease for a child to inherit ... Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD. It accounts for about 90% of all PKD cases ...
... association with adult polycystic kidney disease. Download Prime PubMed App to iPhone, iPad, or Android ... CystsGenital Diseases, MaleHumansMaleMiddle AgedPolycystic Kidney DiseasesRadiographySeminal Vesicles ... Adult polycystic kidney disease (APKD) is associated with cyst formation in the kidney, liver, pancreas, esophagus, ovary, ... Adult polycystic kidney disease (APKD) is associated with cyst formation in the kidney, liver, pancreas, esophagus, ovary, ...
... assessment of disease progression and treatment response, and for identifying complications. Herein we review the role of MRI ... is increasingly used in autosomal dominant polycystic kidney disease (ADPKD) for diagnosis, classification, ... MRI in autosomal dominant polycystic kidney disease J Magn Reson Imaging. 2019 Jul;50(1):41-51. doi: 10.1002/jmri.26627. Epub ... Magnetic resonance imaging (MRI) is increasingly used in autosomal dominant polycystic kidney disease (ADPKD) for diagnosis, ...
Autosomal Recessive Polycystic Kidney Disease (ARPKD) information leaflet ... Chronic kidney disease. Kidney disease is a term used by doctors to include any abnormality of the kidneys, even if there is ... Autosomal recessive polycystic kidney disease. If you would like to discuss your kidney diagnosis with our trained members of ... It is also distinct from adult polycystic kidney disease.. Incidence is estimated to be from 1:10,000 to 1:40,000. The disease ...
Read the cited paper: "Cyst Reduction by Melatonin in a Novel Drosophila Model of Polycystic Kidney Disease." ... Concordia researchers find hormone treatment can be effective against polycystic kidney disease. Melatonin can help reduce ... Its a finding that may affect the way we treat some kidney diseases and reduce the need for kidney transplants. ... there will be more research on the drugs we tested and that we get more results that will help the polycystic kidney disease ...
A New Model of Polycystic Kidney Disease. We recently established the first-in-kind fly model of polycystic kidney disease (PKD ... A New Model of Polycystic Kidney Disease. CCU HomeAcademicsCollegesScienceDirectory. ... Because of the experimental intractability of the vertebrate kidney, we have limited knowledge of the precise mechanisms of PKD ... an incurable genetic disease affecting 12.5 million people world-wide. ...
Dr Neera K. Dahl discusses underlying genetic mutations, disease recognition, and treatment strategies. ... Autosomal dominant polycystic kidney disease frequently leads to end-stage renal disease. ... Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder in which clusters of cysts develop within the ... End-stage renal disease due to ADPKD is a common indication for kidney transplant. ...
Tolvaptanis under clinical development by Otsuka Pharmaceutical and currently in Phase III for Polycystic Kidney Disease. ... Premium Insights Likelihood of Approval and Phase Transition Success Rate Model - Tolvaptan in Polycystic Kidney Disease Buy ... Premium Insights Likelihood of Approval and Phase Transition Success Rate Model - Tolvaptan in Polycystic Kidney Disease. Buy ... Tolvaptan by Otsuka Pharmaceutical for Polycystic Kidney Disease: Likelihood of Approval. Brought to you by ...
Health Issues in the Persian Cat Polycystic Kidney Disease ... POLYCYSTIC KIDNEY DISEASE (PKD). PKD is similar to HCM in that ... For decades, the two most common diseases that cats died from were kidney disease and cancer. Cardiomyopathy is now competing ... PKD is an inherited kidney disease that passes from a genetically affected parent at a statistical rate of about 50%. It can be ... Or it can strike early and unexpectedly with renal demise characterized by multiple cysts in both kidneys. This disease, like ...
... is a genetic disorder characterized by the development of fluid-filled cysts in the kidneys. ... Polycystic kidney disease comes in two types:. *Autosomal dominant polycystic kidney disease (ADPKD): The most common type of ... The majority of polycystic kidney disease cases fall within this category.. *Autosomal recessive polycystic kidney disease ( ... Polycystic kidney disease (PKD) is a genetic disorder characterized by the development of fluid-filled cysts in the kidneys. ...
One hundred and ninety subjects from 100 adult polycystic kidney disease (APKD) families on the North Western Regional Genetic ... Major features of the disease (presence of renal cysts which can lead to renal failure) and forms of therapy (dialysis and ... at high risk of passing on the disease and contemplating children felt they would be interested, and so far only one request ...
... an investigational drug for the treatment of autosomal dominant polycystic kidney disease (ADPKD). ... Phase 3 Trial Update of Tolvaptan for Autosomal Dominant Polycystic Kidney Disease. November 5, 2012 ... These findings are from the TEMPO (Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease ... Close more info about Phase 3 Trial Update of Tolvaptan for Autosomal Dominant Polycystic Kidney Disease ...
The urinary bladder was not visualized which may indicate a lethal form of autosomal recessive polycystic kidney disease. ... Haouimi A, Autosomal recessive polycystic kidney disease - antenatal. Case study, Radiopaedia.org (Accessed on 26 Sep 2023) ... Ultrasound faetures of an autosomal recessive polycystic kidney disease (ARPKD) with relatively severe oligohydramnios. ... "autosomal-recessive-polycystic-kidney-disease-antenatal-3","modality":"Ultrasound","series":[{"id":53996991,"content_type":" ...
C-Paths Polycystic Kidney Disease Outcomes Consortium Secures EMA Qualification Opinion for Enrichment Biomarker in ADPKD ... Home,News & Events,Press Releases,PKD,Critical Path Institutes Polycystic Kidney Disease Outcomes Consortium Secures FDA ... Critical Path Institutes Polycystic Kidney Disease Outcomes Consortium Secures FDA Qualification for Enrichment Biomarker in ... Critical Path Institutes Polycystic Kidney Disease Outcomes Consortium Secures FDA Qualification for Enrichment Biomarker in ...
Autosomal-dominant polycystic kidney disease (ADPKD) is the most common hereditary disease worldwide. ADPKD belongs to ... Defects in this antenna function in the kidney cause cyst development. However, the molecular details how the antenna function ...
Dive into the research topics of Cats: Presumptive cystic haemorrhages in a cat with polycystic kidney and hepatic disease. ... Cats: Presumptive cystic haemorrhages in a cat with polycystic kidney and hepatic disease. ...
Polycystic Kidney Disease: diagnosis and monitoring. Join Kidney Health Australia and Polycystic Kidney Disease Australia for ... case study presented by nephrologist Prof Andrew Mallett who will discuss Autosomal Dominant Polycystic Kidney Disease (ADPKD ...
Polycystic kidney disease (PKD) "We Promised Each Other, In Sickness And In Health Until Death Do Us Part": Husband Donates ... Kidney To Wife Of 51 Years. One wife received a gift more precious than diamonds or rubies from her husband which gave her a ...
... is an inherited disorder that often leadS to kidney failure. PKD DNA test available for Persian and related breeds. ... Feline Polycystic Kidney Disease (PKD). Feline polycystic kidney disease is an inherited disorder characterised by development ... Kidney function deteriorates with age and kidney disease occurs between 3 and 10 years of age, with an average of seven years. ... Feline polycystic kidney disease mutation identified in PKD1. J. Am. Soc. Nephrol. 15, 2548-2555. ...
  • PKD is a general term for two types, each having their own pathology and genetic cause: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). (wikipedia.org)
  • Autosomal dominant polycystic kidney disease (ADPKD) is the most common of all the inherited cystic kidney diseases with an incidence of 1:500 live births. (wikipedia.org)
  • Studies show that 10% of end-stage kidney disease (ESKD) patients being treated with dialysis in Europe and the U.S. were initially diagnosed and treated for ADPKD. (wikipedia.org)
  • The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. (medlineplus.gov)
  • Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD. (uhhospitals.org)
  • A prolonged course of antibiotic therapy dramatically reduces the risk of recurrence in patients with renal cyst infections in the context of autosomal dominant polycystic kidney disease (ADPKD), a new study indicates. (medscape.com)
  • A renal cyst infection is considered a major complication of ADPKD, he added, and is associated with frequent hospitalization, worsening kidney function, and significant mortality. (medscape.com)
  • Available at: https://www.dynamed.com/condition/autosomal-dominant-polycystic-kidney-disease-adpkd. (epnet.com)
  • o To assess the value of potential therapeutic targets to slow the progression of disease in both ADPKD and ARPKD. (nih.gov)
  • Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are cilia-related disorders and the two main forms of monogenic cystic kidney diseases. (nih.gov)
  • ADPKD is a common disease that mostly presents in adults, whereas ARPKD is a rarer and often more severe form of polycystic kidney disease (PKD) that usually presents perinatally or in early childhood. (nih.gov)
  • The condition is broadly divided into 2 forms: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). (medscape.com)
  • However, note that although ADPKD was previously known as adult polycystic kidney disease and ARPKD was previously known as infantile polycystic kidney disease, those descriptions are not accurate, and that nomenclature is no longer used. (medscape.com)
  • ADPKD is one of the most common inherited disorders in humans and the most frequent genetic cause of kidney failure in adults, accounting for 6-8% of patients on dialysis in the United States. (medscape.com)
  • Autosomal dominant PKD (ADPKD), where only one parent needs to have the disease for it to pass to their children, is the most common form of PKD. (mayo.edu)
  • In 2018, FDA approved the drug tolvaptan for use in patients with ADPKD at risk of rapid disease progression. (mayo.edu)
  • Therefore, when treating ADPKD, it is helpful to understand the factors affecting disease progression. (medpagetoday.com)
  • Dr. Park and colleagues aimed to investigate the clinical features of patients with ADPKD and risk factors associated with disease progression. (medpagetoday.com)
  • The cohort was 50.7% men, and 39.2% had a family history of ADPKD, 68.4% had hypertension, and 5.9% developed cardiovascular disease. (medpagetoday.com)
  • Worse kidney survival rates were observed among individuals diagnosed with ADPKD after age 30 years, those with baseline serum creatinine levels above the upper limit of normal, and those with cyst infection. (medpagetoday.com)
  • Limitations of this study include the inability to collect data regarding total kidney volume, the lack of performance of genetic testing and subsequent investigation of PKD1 and PKD2 gene mutations, and the lack of information on treatment of patients with ADPKD. (medpagetoday.com)
  • Autosomal dominant polycystic kidney disease (ADPKD) is characterized by bilateral renal cysts, kidney pain, hypertension, and progressive loss of renal function. (nih.gov)
  • If one parent has ADPKD, each child has a 50% chance of getting the disease. (mayoclinic.org)
  • TUCSON, Ariz., November 13, 2015 - The Critical Path Institute (C-Path) announced today that the European Medicines Agency (EMA) rendered a positive qualification opinion to C-Path's Polycystic Kidney Disease Outcomes Consortium ( PKDOC ) for total kidney volume (TKV) as a prognostic biomarker to select patients for clinical trials of new therapies for Autosomal Dominant Polycystic Kidney Disease (ADPKD). (c-path.org)
  • ADPKD is a debilitating genetic disease affecting approximately 600,000 Americans and 12 million people worldwide. (c-path.org)
  • TKV is a measurement of the impact of ADPKD on the size of the kidneys and is considered to be predictive of a future decline in kidney function. (c-path.org)
  • This qualification, along with a similar one from FDA, confirms the relationship between TKV and ADPKD disease progression, and will help in the design of clinical trials for new therapies for ADPKD" says C-Path Chief Operating Officer and PKDOC Co-Director Steve Broadbent. (c-path.org)
  • A team of researchers at the University of Cologne is launching a study on the effects of ketogenic dietary regimens in patients affected by hereditary polycystic kidney disease (ADPKD). (uni-koeln.de)
  • Large kidney cysts are associated with ADPKD. (healthychildren.org)
  • A parent with ADPKD has a 50% chance of passing the disease on to each of their children. (healthychildren.org)
  • Children with a family history of ADPKD should have periodic urinalyses and blood pressure measurements to identify early manifestations of the disease. (healthychildren.org)
  • It is not recommended for otherwise healthy children and teens to have kidney-imaging tests done, regardless of whether a parent has ADPKD. (healthychildren.org)
  • There is no cure for ADPKD, but a new treatment is available that has been shown to slow the progression of ADPKD to kidney failure. (healthykidneyclub.com)
  • The signs and symptoms of ADPKD , such as pain, high blood pressure, and kidney failure, are also PKD complications. (healthykidneyclub.com)
  • In many cases, ADPKD does not cause signs or symptoms until your kidney cysts are a half inch or larger in size. (healthykidneyclub.com)
  • This presentation will discuss the pathophysiology, disease progression, and the physical & emotional burden of autosomal dominant polycystic kidney disease (ADPKD). (nephu.org)
  • The key factors that play into ADPKD disease diagnosis and progression will be presented. (nephu.org)
  • BACKGROUND Hypertension is common in autosomal dominant polycystic kidney disease (ADPKD) and is associated with increased total kidney volume, activation of the renin-angiotensin- aldosterone system, and progression of kidney disease. (elsevierpure.com)
  • CONCLUSIONS In early ADPKD, the combination of lisinopril and telmisartan did not significantly alter the rate of increase in total kidney volume. (elsevierpure.com)
  • Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to each other on chromosome 16p. (ox.ac.uk)
  • The Polycystic Liver Disease Panel covers isolated polycystic liver disease (PCLD) and autosomal dominant polycystic kidney disease (ADPKD) where hepatic cysts are present in over 80% of cases as the most frequent extra-renal manifestation. (blueprintgenetics.com)
  • The disease is restricted to the liver in PCLD but ADPKD is a multi-system disorder with polycystic kidneys as the major feature. (blueprintgenetics.com)
  • Nearly half of all ADPKD patients have end-stage renal disease (ESRD) by age 60 years. (blueprintgenetics.com)
  • Background: Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by multitudes of expanding renal cysts associated with mononuclear interstitial infiltrates. (elsevierpure.com)
  • The morbidity associated with the most common forms, autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD), is mostly limited to the kidney and liver and extends from neonates to old age. (mhmedical.com)
  • Using two drugs was no more effective than a single drug in slowing disease progression in people with autosomal dominant polycystic kidney disease (ADPKD), according to two studies funded by the National Institutes of Health (NIH). (nih.gov)
  • One of the studies also showed that rigorous blood pressure treatment slowed growth of kidney cysts, a marker of ADPKD, but had little effect on kidney function compared to standard blood pressure treatment. (nih.gov)
  • The HALT-PKD trial enrolled volunteers to test whether a combination of commonly used FDA-approved drugs, lisinopril and telmisartan, could shrink kidney cysts and therefore slow progression of ADPKD, a genetic disorder characterized by growth of fluid-filled cysts in the kidneys. (nih.gov)
  • Within the trial, one study examined 558 people with early-stage ADPKD and relatively healthy kidneys. (nih.gov)
  • In the study of people with early ADPKD and healthy kidneys, researchers also tested if decreasing blood pressure below usual targets would slow progression of ADPKD and preserve kidney function. (nih.gov)
  • ADPKD is the most common kind of polycystic kidney disease, representing 90 percent of the approximately 600,000 U.S. cases. (nih.gov)
  • Intrarenal renin-angiotensin system ( RAS ) is known to play the major role in the development of hypertension and renal progression in autosomal dominant polycystic kidney disease ( ADPKD ). (bvsalud.org)
  • From 2011 to 2016, a total of 364 ADPKD patients were enrolled in the prospective cohort called the KoreaN Cohort Study for Outcomes in Patients With Chronic Kidney Disease (KNOW-CKD). (bvsalud.org)
  • It used to be called adult polycystic kidney disease. (uhhospitals.org)
  • Florid first presentation of adult polycystic kidney disease (APKD) identifying the cause for both the early hypertension and renal impairment. (radiopaedia.org)
  • Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease? (bmj.com)
  • Using this test, neither our two families nor the data published so far on other families provide compelling evidence for the existence of a second locus for adult polycystic kidney disease. (bmj.com)
  • In the past, this type was called adult polycystic kidney disease, but children can develop the disorder.Only one parent needs to have the disease for it to pass to the children. (mayoclinic.org)
  • Adult Polycystic Kidney Disease is a genetic disease which is dominant so it's passed if you have one of the genes it's passed to the next generation. (nih.gov)
  • This condition was previously known as adult polycystic kidney disease, however it can also affect youngsters. (medicahospitals.in)
  • PKD is the fourth leading cause of chronic kidney disease (CKD) in America, affecting approximately 500,000 people. (nih.gov)
  • Chronic Kidney Disease Your kidneys are 2 bean-shaped organs that produce urine. (msdmanuals.com)
  • PKD is a form of chronic kidney disease that reduces kidney function and may lead to kidney failure . (healthykidneyclub.com)
  • Instead, ACKD is caused by chronic kidney disease or kidney failure/ESRD. (healthykidneyclub.com)
  • Having PKD increases one's risk of developing chronic kidney disease (CKD) . (medicahospitals.in)
  • Chronic kidney disease, commonly known as chronic kidney failure, is characterized by the progressive loss of renal function. (medicahospitals.in)
  • About 10% of the world's population is affected by chronic kidney disease (CKD). (santabarbaranutrients.com)
  • Genetic disorder defined by the pathological development of fluid-filled cysts throughout the kidneys leading to organ enlargement and chronic kidney disease. (mhmedical.com)
  • Intravenous contrast media (typically iohexol or iodixanol) used in computed tomography does not appear to be associated with chronic kidney disease, dialysis, kidney transplant or acute kidney injury, despite long-held fears to the contrary. (news-medical.net)
  • Patients who have chronic kidney disease but are not on dialysis have higher out-of-pocket healthcare expenses than even stroke and cancer patients, according to a study by researchers at Loyola University Chicago and Loyola Medicine. (news-medical.net)
  • Among them, a total of 207 subjects in chronic kidney disease stage 1-4 with baseline urinary AGT and total kidney volume and subsequent renal function follow-up data over more than 1 year were included in the analysis . (bvsalud.org)
  • Autosomal recessive polycystic kidney disease (ARPKD) (OMIM #263200) is the less common of the two types of PKD, with an incidence of 1:20,000 live births and is typically identified in the first few weeks after birth. (wikipedia.org)
  • Unfortunately, the kidneys are often underdeveloped resulting in a 30% death rate in newborns with ARPKD. (wikipedia.org)
  • The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. (medlineplus.gov)
  • Children born with ARPKD may develop kidney failure within a few years. (uhhospitals.org)
  • for full discussion of ARPKD, see Pediatric Polycystic Kidney Disease . (medscape.com)
  • Sweeney WE Jr, Avner ED. Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). (medscape.com)
  • Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. (medscape.com)
  • Most children with ARPKD have high blood pressure and progressive kidney failure. (healthychildren.org)
  • Striking pyramidal hyperechogenicity resembling the sonographic appearance of medullary nephrocalcinosis was found in autosomal recessive polycystic kidney disease (ARPKD). (wustl.edu)
  • Gross pathology and low-power light microscopy of kidney tissue in a neonate with ARPKD. (aspneph.org)
  • One needs to consider wisdom of removing kidneys given RRF survival advantage, but if there have been many problems, the kidneys are often removed pre-transplant. (medscape.com)
  • We too found that cyst infections recur frequently, at around 14%, during the first year of follow-up, that the risk is higher in kidney transplant recipients, but that recurrence can be effectively prevented by prolonged antibiotic treatment of at least 28 days," added Dang, of Necker-Enfants Malades Hospital, Paris, France. (medscape.com)
  • Median age of the group was 53 years and almost one third of patients were kidney transplant recipients. (medscape.com)
  • Treatments for end-stage kidney disease may include dialysis or a kidney transplant . (medlineplus.gov)
  • People with PKD who don't have other diseases may be good candidates for a kidney transplant. (medlineplus.gov)
  • Eventually, his father's only hope for survival would come from a kidney transplant, a long shot in their home country of Lebanon. (mayo.edu)
  • To make dialysis and kidney transplant for PKD a thing of the past. (mayo.edu)
  • Lifestyle changes and treatments might help reduce damage to the kidneys from complications, but long-term interventions, including dialysis or kidney transplant , are sometimes needed. (mayoclinic.org)
  • UMMC is one of a few centers to remove useless kidneys and perform kidney transplant in one operation. (umms.org)
  • Peter knew a transplant was his only option, so he dove into researching unique treatments for polycystic kidney disease. (umms.org)
  • He was surprised to learn that unlike most other transplant centers, UMMC transplant surgeons remove both polycystic kidneys and then perform a living donor transplant in one surgery. (umms.org)
  • he had two brothers who were simultaneously researching kidney transplant options for treatment of their PKD at other transplant centers. (umms.org)
  • They will need to be on kidney dialysis and or receive a kidney transplant by late childhood to survive. (healthychildren.org)
  • If you dont have other medical problems, you may be a good candidate for a kidney transplant. (healthykidneyclub.com)
  • Liver from a 62-year-old woman (lung transplant patient) cerebrospinal fl uid (CSF) collected from the right kidney showing acute necrosis of hepatocytes and minimal infl ammation. (cdc.gov)
  • More information and support for people with polycystic kidney disease and their families can be found at a kidney disease support group . (medlineplus.gov)
  • Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. (encyclopedia.pub)
  • The HALT-PKD findings show that people with polycystic kidney disease do not need to take both of the drugs studied to slow their rate of kidney cyst growth and decline in kidney function. (nih.gov)
  • The disease is characterized by a 'second hit' phenomenon, in which a mutated dominant allele is inherited from a parent, with cyst formation occurring only after the normal, wild-type gene sustains a subsequent second genetic 'hit', resulting in renal tubular cyst formation and disease progression. (wikipedia.org)
  • Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes. (medscape.com)
  • Substantial difficulties exist in the translation of fundamental insight into therapeutic methods, including the slow rate of progression of the disease in patients and the difficulty of monitoring cyst growth. (nih.gov)
  • Also critical will be the development of improved methods to monitor progression of disease in PKD patients. (nih.gov)
  • Development of imaging methods that assess cyst growth and provide markers of disease progression could markedly improve the feasibility of clinical trials. (nih.gov)
  • In 1999, the NIDDK funded the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) to determine whether changes in anatomic characteristics of the kidneys of patients with PKD will be useful in providing surrogate measures for disease progression. (nih.gov)
  • This RFA, Polycystic Kidney Disease: Innovative Imaging of Disease Progression, relates to the priority areas of chronic disabling conditions and prevention services. (nih.gov)
  • Cyclic AMP has been shown to play a role in all aspects of PKD, including the initiation, progression and end stages of the disease. (mayo.edu)
  • In Autosomal Dominant Polycystic Kidney Disease, What are the Risk Factors for Disease Progression? (medpagetoday.com)
  • Early diagnosis and observation for cyst infection onset are crucial to delay progression of autosomal dominant polycystic kidney disease (ADKPD) to end-stage renal disease (ESRD), a recent study suggests. (medpagetoday.com)
  • Polycystic kidney disease (PKD) represents a family of genetic disorders characterized by renal cystic growth and progression to kidney failure. (nih.gov)
  • Tolvaptan delays the increase in total kidney volume (surrogate marker for disease progression), slows the decline in renal function, and reduces kidney pain. (nih.gov)
  • The EMA opinion states, "CHMP [Committee for Medicinal Products for Human Use] supports baseline total kidney volume, in combination with patient age and eGFR [estimated glomerular filtration rate] as a prognostic biomarker to identify patients likely to experience a progressive decline in renal function, as characterized by a decline in eGFR or progression to end-stage renal disease. (c-path.org)
  • From the data provided it is reasonable to expect that baseline TKV can predict disease progression and is a biomarker valuable for risk stratification. (c-path.org)
  • Studies using rodent models of polycystic kidney disease have already shown that the metabolic state of ketosis is important in inhibiting the progression of this disease since the cyst-lining cells cannot adapt to the altered metabolism. (uni-koeln.de)
  • Volume progression in polycystic kidney disease. (medscape.com)
  • Life-changing impacts in their disease progression. (thepkddietitian.com)
  • Clinical and preclinical studies are underway to advance the use of fluorescence to measure and monitor disease progression. (medibeacon.com)
  • Understanding disease progression and medical intervention effectiveness is of paramount importance. (medibeacon.com)
  • Polycystic Kidney Disease" Encyclopedia , https://encyclopedia.pub/entry/5381 (accessed December 09, 2023). (encyclopedia.pub)
  • The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. (medlineplus.gov)
  • Autosomal dominant polycystic kidney disease is one of the most common forms of polycystic kidney disease. (healthykidneyclub.com)
  • Sadick M, Attenberger U, Kraenzlin B, Kayed H, Schoenberg SO, Gretz N, Schock-Kusch D, "Two non-invasive GFR-estimation methods in rat models of polycystic kidney disease: 3.0 Tesla dynamic contrast enhanced MRI and optical imaging," Nephrol. (medibeacon.com)
  • Polycystic liver disease genes: Practical considerations for genetic testing. (medscape.com)
  • Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. (medscape.com)
  • It is also associated with liver disease , including infection of liver cysts. (medlineplus.gov)
  • In 18% of cases there is a congenital cystic liver disease. (hpathy.com)
  • Just as polycystic kidney disease may invove the liver, autosomal dominant polycystic liver disease (ADPLD) may involve cysts in the kidneys, although if present, they are few in number. (medscape.com)
  • A number of these children will also develop liver disease, leading to esophageal bleeding and ultimately liver failure. (healthychildren.org)
  • Is ideal for patients with a clinical suspicion of isolated polycystic liver disease. (blueprintgenetics.com)
  • In susceptible patients, including those with severe malnutrition, alcoholism or advanced liver disease, slower rates of correction may be advisable. (nih.gov)
  • Frequent complications of polycystic kidney disease include dangerously high blood pressure ( hypertension ), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones , and heart valve abnormalities. (medlineplus.gov)
  • In addition to the symptoms generally experienced with PKD, there may be complications as cysts on the kidneys grow larger. (healthline.com)
  • The disease can cause serious complications, including high blood pressure and kidney failure. (mayoclinic.org)
  • The disease varies greatly in its severity, and some complications from polycystic kidney disease are preventable. (mayoclinic.org)
  • Complications to your kidneys may be lessened with lifestyle modifications and therapies. (medicahospitals.in)
  • Both autosomal dominant and autosomal recessive polycystic kidney disease cyst formation are tied to abnormal cilia-mediated signaling. (wikipedia.org)
  • It is a multisystemic and progressive disorder characterized by cyst formation and enlargement in the kidney and other organs (eg, liver, pancreas, spleen). (medscape.com)
  • But the potential effect on kidney growth by cyst formation associated with the disease, which often causes discomfort, is also important,' Müller remarked. (uni-koeln.de)
  • To understand cyst formation better, Freedman's team and others have invented methods to grow human kidney organoids, complete with a system of internal tubules. (nih.gov)
  • Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. (medlineplus.gov)
  • Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people. (medlineplus.gov)
  • Renal volume, renin-angiotensin-aldosterone system, hypertension, and left ventricular hypertrophy in patients with autosomal dominant polycystic kidney disease. (medscape.com)
  • Pei Y. Diagnostic approach in autosomal dominant polycystic kidney disease. (medscape.com)
  • Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. (medscape.com)
  • Follow-up of intracranial aneurysms in autosomal dominant polycystic kidney disease by magnetic resonance angiography. (medscape.com)
  • Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. (medscape.com)
  • Pirson Y. Extrarenal Manifestations of Autosomal Dominant Polycystic Kidney Disease. (medscape.com)
  • Assessment of Adrenal Functions in Patients with Autosomal Dominant Polycystic Kidney Disease. (medscape.com)
  • Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes. (medscape.com)
  • Current management of autosomal dominant polycystic kidney disease. (medscape.com)
  • Patterns of autosomal dominant polycystic kidney diseases in black Africans. (medscape.com)
  • A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. (mcw.edu)
  • 1. Park H, Paek JH, Kim Y, Park WY, Han S, Jin K. Clinical characteristics and risk factors for kidney failure in patients with autosomal dominant polycystic kidney disease: a retrospective study. (medpagetoday.com)
  • Yoder BK, Mulroy S, Eustace H, Boucher C, Sandford R. Molecular pathogenesis of autosomal dominant polycystic kidney disease. (medscape.com)
  • Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. (medscape.com)
  • Seeman T, Jansky P, Filip F, Bláhová K, Jaroš A. Increasing prevalence of hypertension during long-term follow-up in children with autosomal dominant polycystic kidney disease. (medscape.com)
  • Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth. (medscape.com)
  • Approaches to testing new treatments in autosomal dominant polycystic kidney disease: insights from the CRISP and HALT-PKD studies. (medscape.com)
  • Tolvaptan in patients with autosomal dominant polycystic kidney disease. (medscape.com)
  • Multicenter, open-label, extension trial to evaluate the long-term efficacy and safety of early versus delayed treatment with tolvaptan in autosomal dominant polycystic kidney disease: the TEMPO 4:4 Trial. (medscape.com)
  • Bosutinib versus Placebo for Autosomal Dominant Polycystic Kidney Disease. (medscape.com)
  • OBJECTIVE: The aim of this study was to determine a novel oxidative stress marker, plasma thiol-disulphide homoeostasis, in patients with autosomal dominant polycystic kidney disease (APKD). (uludag.edu.tr)
  • Urinary Angiotensinogen in addition to Imaging Classification in the Prediction of Renal Outcome in Autosomal Dominant Polycystic Kidney Disease. (bvsalud.org)
  • Polycystic kidney disease is a disorder that affects the kidneys and other organs. (medlineplus.gov)
  • which disrupt the normal functions of the kidneys and other organs. (medlineplus.gov)
  • To diagnose all three types of PKD, your doctor may use imaging tests to look for cysts of the kidney, liver, and other organs. (healthline.com)
  • Using imaging tests to find cysts on the kidney and other organs. (uhhospitals.org)
  • While Wendy was in her donation surgery, Dr. Michael Phelan was removing Peter's enlarged polycystic kidneys, which had invaded his abdomen and become connected to his liver and other organs. (umms.org)
  • Stones in the Urinary Tract (Kidney Stones) Your urinary tract includes: Kidneys, two bean-shaped organs that make urine Ureters, the tubes that drain urine from each kidney to your bladder Bladder, a hollow organ that holds urine until. (msdmanuals.com)
  • Mutations in the PKD1 or PKD2 gene lead to the formation of thousands of cysts, which disrupt the normal functions of the kidneys and other organs. (encyclopedia.pub)
  • Because the kidneys are such important organs, their failure may start to affect other organs, such as the liver. (healthykidneyclub.com)
  • About 70,000 adults and children in the UK have Polycystic Kidney Disease or PKD - life-threatening inherited conditions that can cause renal (kidney) failure and affect other organs in the body. (giveasyoulive.com)
  • When Do Symptoms of Polycystic kidney disease Begin? (nih.gov)
  • The signs and symptoms, including a decline in kidney function, tend to appear later in adulthood in people with a PKD2 mutation. (medlineplus.gov)
  • Many people live with PKD for years without experiencing symptoms associated with the disease. (healthline.com)
  • Sometimes, symptoms don't appear until later in childhood or during adolescence.Both parents must have abnormal genes to pass on this form of the disease. (mayoclinic.org)
  • Simple kidney cysts are often detected during an imaging test (e.g. ultrasound, CT, MRI) being done for another condition, because they rarely cause pain or other symptoms. (healthychildren.org)
  • It's possible that only 10% of your kidneys are functioning, yet you're not aware of any symptoms or difficulties. (medicahospitals.in)
  • If kidney damage proceeds slowly, signs and symptoms of chronic renal disease emerge over time. (medicahospitals.in)
  • Independent risk factors for recurrent cyst infections during the first year of follow-up included kidney transplantation, which increased the risk of recurrence by almost fourfold, at a hazard ratio (HR) of 3.76 ( P = .041). (medscape.com)
  • Once the lifeless kidneys were out, Dr. Jonathan Bromberg , chief of the Division of Transplantation, transplanted Wendy's kidney into Peter. (umms.org)
  • More than 50 per cent of these patients will lose their kidney function by 50-60 years of age and will depend on renal-replacement therapies such as dialysis or kidney transplantation. (uni-koeln.de)
  • When PKD causes kidneys to fail - which usually happens after many years - the patient requires dialysis or kidney transplantation. (healthykidneyclub.com)
  • Enlarged cysts in kidneys can lead to reduced kidney function and eventually kidney failure, where the only treatment is dialysis or transplantation," said study author Michael Flessner, M.D., Ph.D., a program director at the NIH's National Institute of Diabetes and Digestive and Kidney Diseases, which funded the trial. (nih.gov)
  • NIDDK and other components of the NIH conduct and support research into many diseases and conditions. (nih.gov)
  • See more about kidney diseases research at NIDDK . (nih.gov)
  • This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. (nih.gov)
  • NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. (nih.gov)
  • The NIDDK convened a strategic planning meeting on Polycystic Kidney Disease in July 2002. (nih.gov)
  • The HALT-PKD studies were well performed and the largest of their kind," said Robert Star, M.D., director of the Division of Kidney, Urologic, and Hematologic Diseases within NIDDK. (nih.gov)
  • Mutations in the PKD1 , PKD2 , and PKHD1 genes cause polycystic kidney disease. (medlineplus.gov)
  • Polycystic kidney disease is caused by abnormal genes, which implies that it usually runs in families. (medicahospitals.in)
  • To pass on this kind of the disease, both parents must have defective genes. (medicahospitals.in)
  • Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. (ox.ac.uk)
  • Polycystic kidney disease (PKD) is when many fluid-filled cysts form in the kidneys. (epnet.com)
  • The kidneys of people with the condition become jammed with dense, fluid-filled sacs, causing them to increase in size and decrease in function. (mayo.edu)
  • Polycystic kidney disease (PKD) is a disorder in which many cysts (fluid-filled sacs) form in both of your kidneys. (msdmanuals.com)
  • Using this one-two approach at the lab bench, the researchers modeled in just a few weeks different aspects of the fluid-filled cysts that form in polycystic kidney disease (PKD ), a common cause of kidney failure. (nih.gov)
  • People with mutations in the PKD2 gene, particularly women, typically have a less severe form of the disease than people with PKD1 mutations. (medlineplus.gov)
  • Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. (medlineplus.gov)
  • We consider the evidence that in these families the disease might result from a mutation at a different locus, PKD2, not linked to PKD1. (bmj.com)
  • The implicated gene has prognostic value as the median age at ESRD was 58 years for PKD1 and 79 years for PKD2 related disease. (blueprintgenetics.com)
  • Sometimes, the kidneys are so large and function so poorly that infants are born with severe respiratory problems and do not survive. (healthychildren.org)
  • Diabetic associated severe disease. (cdc.gov)
  • Spanning the full spectrum of medicine and afflicting people of all ages and ethnic groups, these diseases encompass some of the most common, severe and disabling conditions affecting Americans. (nih.gov)
  • Twenty-four families with adult onset polycystic kidney disease were typed for markers flanking the PKD1 locus on chromosome 16. (bmj.com)
  • Polycystic kidneys are hereditary and can be transmitted by either parent as an autosomal dominant trait. (hpathy.com)
  • Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. (medlineplus.gov)
  • Researchers have not determined how mutations in the PKHD1 gene lead to the formation of numerous cysts characteristic of polycystic kidney disease. (medlineplus.gov)
  • Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. (medlineplus.gov)
  • It's also inherited, but both parents must carry the gene for the disease. (healthline.com)
  • Parents who don't have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their child. (uhhospitals.org)
  • If both parents carry a gene for this disorder, each child has a 25% chance of getting the disease. (mayoclinic.org)
  • If both parents have the disease-causing gene, each child has a 25% chance of developing it. (medicahospitals.in)
  • and kidney, urologic and hematologic diseases. (nih.gov)
  • Polycystic kidney disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys. (healthykidneyclub.com)
  • Research has shown that for every four years a patient takes tolvaptan, the predicted onset of kidney failure is delayed by one year. (mayo.edu)
  • It wasn't until his 30s that Peter was diagnosed with late onset polycystic kidney disease. (umms.org)
  • Ardelyx, Inc., a clinical-stage company focused on enhancing the treatment of patients with gastrointestinal and cardiorenal diseases, today announced the initiation of a Phase 3 clinical trial and an onset-of-action clinical trial evaluating RDX7675 in patients with hyperkalemia, a potentially life-threatening condition common in patients with cardiorenal disease. (news-medical.net)
  • PKD may impair kidney function and eventually cause kidney failure. (healthline.com)
  • PKD is the fourth leading cause of kidney failure. (healthline.com)
  • It's more common in people who have kidney failure or are on dialysis. (healthline.com)
  • It can lead to kidney failure. (uhhospitals.org)
  • Eventually, it may lead to end-stage kidney failure . (medlineplus.gov)
  • The disease presentation is highly variable, with some patients developing only a modest number of renal cysts during their lifetime without being aware of this disorder, while others develop a massive number of renal cysts and renal failure at an early age. (nih.gov)
  • Age at diagnosis after 30 years, baseline serum creatinine levels, and cyst infection were found to be the significant and independent risk factors for kidney failure. (medpagetoday.com)
  • 30 years at diagnosis, baseline serum creatinine levels, hypertension, cardiovascular disease, and cyst infection led to significantly increased risk of kidney failure in univariate analysis. (medpagetoday.com)
  • These sacs, or cysts, crowd out healthy tissue, leading over time to reduced kidney function and, in some instances, complete kidney failure. (nih.gov)
  • The most obvious one is the kidney and eventually the kidney gets replaced by multiple cysts and the kidney ends up being 2, 3, 4 times its normal size and eventually the person will go into renal failure because of that. (nih.gov)
  • The most common form of this is PKD, in which cysts can replace the kidney over time and cause kidney failure. (healthychildren.org)
  • The progressive expansion of PKD cysts slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. (healthykidneyclub.com)
  • About one-half of people with the major type of PKD progress to kidney failure, also called end-stage kidney disease . (healthykidneyclub.com)
  • It is estimated that 50 percent of people with PKD will experience kidney failure by age 60. (healthykidneyclub.com)
  • Certainly, the king's doctors did not believe that kidney failure was responsible for the death - in fact, the idea that changes in organ structure can cause disease was still new at time. (pkdaustralia.org)
  • Kidney failure can result in an accumulation of fluid or waste, as well as electrolyte imbalances. (medicahospitals.in)
  • Nephropathy is a broad medical term used to denote disease or damage of the kidney, which can eventually result in kidney failure. (news-medical.net)
  • Researchers at the Polycystic Kidney Disease (PKD) Center at Mayo Clinic now use artificial intelligence (AI) to assess total kidney volume, generating results in a matter of seconds. (mayo.edu)
  • The primary outcome was the annual percentage change in the total kidney volume. (elsevierpure.com)
  • RESULTS The annual percentage increase in total kidney volume was significantly lower in the low-blood-pressure group than in the standard-blood-pressure group (5.6% vs. 6.6%, P = 0.006), without significant differences between the lisinopril-telmisartan group and the lisinopril-placebo group. (elsevierpure.com)
  • As compared with standard bloodpressure control, rigorous blood-pressure control was associated with a slower increase in total kidney volume, no overall change in the estimated GFR, a greater decline in the left-ventricular-mass index, and greater reduction in urinary albumin excretion. (elsevierpure.com)
  • In the TEMPO 3:4 trial, tolvaptan slowed the rate of increase in total kidney volume (TKV) and the rate of decline in estimated glomerular filtration rate (EGFR). (elsevierpure.com)
  • Simple kidney cysts in children are rare. (healthychildren.org)
  • Unlike the usually harmless simple kidney cysts that can form in the kidneys later in life, PKD cysts can change the shape of your kidneys, including making them much larger. (healthykidneyclub.com)
  • The disease also usually affects the liver, spleen, and pancreas. (uhhospitals.org)
  • Autosomal recessive PKD is a rare genetic disorder that affects the liver as well as the kidneys. (nih.gov)
  • The polycystin-1 and polycystin-2 proteins appear to be involved in both autosomal dominant and recessive polycystic kidney disease due to defects in both proteins. (wikipedia.org)
  • The autosomal dominant form of the disease is much more common than the autosomal recessive form. (medlineplus.gov)
  • Translational strategies for autosomal recessive and dominant polycystic kidney disease / Gregory G. Germino, Lisa M. Guay-Woodford. (nih.gov)
  • Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. (medscape.com)
  • Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. (medscape.com)
  • Herman, TE & Siegel, MJ 1991, ' Pyramidal hyperechogenicity in autosomal recessive polycystic kidney disease resembling medullary nephrocalcinosis ', Pediatric radiology , vol. 21, no. 4, pp. 270-271. (wustl.edu)
  • Sometimes, the first sign is a urinary tract infection (UTI) and or kidney stones . (healthychildren.org)
  • PKD cysts can impair how the kidneys work. (uhhospitals.org)
  • They develop cysts - sacs filled with fluid - which can significantly impair kidney function. (uni-koeln.de)
  • Low potassium can impair your kidneys' ability to concentrate urine and may lead to excessive thirst or excessive urination. (healthline.com)
  • Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. (uhhospitals.org)
  • They build public awareness of the disease and are a driving force behind research to improve patients' lives. (nih.gov)
  • I have had patients with highly variable kidney size on PD. (medscape.com)
  • I have had 4 patients with 16+ cm kidneys and each of them did fine with 2-2.5 liter dwells. (medscape.com)
  • Uraemia: Patients with congenital cystic kidneys pass large volumes of urine of low specific gravity (1.010 or less) which contains a trace of albumin but no casts or cells. (hpathy.com)
  • 4 cysts in each kidney for patients aged 60 years and older. (medpagetoday.com)
  • Many centers do not remove the polycystic kidneys at all, leaving patients with the discomfort of carrying around an additional 10-25 pounds of enlarged, dysfunctional kidneys. (umms.org)
  • Coordinated by the Clinical Study Center of the Department II of Internal Medicine, the current study investigates for the first time the feasibility, safety, and efficacy of ketogenic dietary regimens in polycystic kidneys in humans in three groups à 21 patients. (uni-koeln.de)
  • Data from randomized trials on safety and efficacy are very limited so far, especially in patients with kidney disease. (uni-koeln.de)
  • Pain patterns in patients with polycystic kidney disease. (medscape.com)
  • Monocyte chemotactic protein-1 is produced in the kidneys and excreted in the urine (uMCP1) of these patients in increased amounts. (elsevierpure.com)
  • This MRI uses strong magnets to image your body to visualize kidney structure and look for cysts. (healthline.com)
  • This MRI employs powerful magnets to picture your body in order to see the structure of your kidneys and look for cysts. (medicahospitals.in)
  • or an incidental finding of abnormal kidney function on routine lab work (BUN, serum creatinine, or eGFR). (wikipedia.org)
  • As the cysts accumulate fluid, they enlarge, separate entirely from the nephron, compress the neighboring kidney parenchyma, and progressively compromise kidney function. (wikipedia.org)
  • The two proteins work together to promote normal kidney development, organization, and function. (medlineplus.gov)
  • Blood and urine tests will be done to check kidney function. (epnet.com)
  • Although certain topics are already receiving careful study, the timely opportunities to discover more about the etiology and pathogenesis of PKD in particular, and the related cellular and molecular mechanisms that determine kidney function in general, need to be addressed. (nih.gov)
  • o To improve methods of mutation detection in human polycystic kidney diseases, and assess the effect of the more common specific mutations on protein function and clinical phenotype. (nih.gov)
  • Polycystic kidney disease is an inherited disorder where clusters of cysts develop within the kidneys, causing the kidneys to enlarge and lose function over time. (mayoclinic.org)
  • If these tests show you have PKD, doctors do blood tests at regular intervals to check your kidney function. (msdmanuals.com)
  • Preserving kidney function is the primary goal. (uni-koeln.de)
  • Fortunately, the remaining kidney is usually able to take over all kidney function. (healthychildren.org)
  • Polycystic kidney disease (PKD) is a genetic illness in which cyst clusters form mostly in the kidneys, causing them to expand and lose function over time. (medicahospitals.in)
  • Her knowledge of PKD, and how a diet and supplements could improve kidney function was astounding. (thepkddietitian.com)
  • People with heart problems, high blood pressure , or poor kidney function often take medications that are called diuretics . (healthline.com)
  • Sickle cell anemia can affect kidney function. (healthline.com)
  • The other study treated 486 people with more advanced disease and decreased kidney function. (nih.gov)
  • In both studies, adding the second drug did not change kidney function or rate of increase in kidney cyst size. (nih.gov)
  • However, kidney function - measured by estimated glomerular filtration rate (eGFR) - was about the same as the standard group at the end of the trial, yielding no clinical benefit. (nih.gov)
  • More research is needed to better understand how polycystic kidney disease destroys kidney function over time, and what combination of medications can most safely and effectively prevent or undo the damage caused by this devastating condition. (nih.gov)
  • The primary and most obvious functions of the kidney are to excrete any waste products and to regulate the water and acid-base balance of the body - therefore loss of kidney function is a potentially fatal condition. (news-medical.net)
  • Higher blood levels of a protein called klotho may help preserve kidney function, according to a study appearing in an upcoming issue of the Journal of the American Society of Nephrology. (news-medical.net)
  • Measurement of GFR is widely accepted as the best indicator of kidney function. (medibeacon.com)
  • References on this website to measured kidney function and measured renal function refer to the measured GFR. (medibeacon.com)
  • It is possible that children with large kidneys and/or large cysts will have more episodes of blood in the urine if they play contact sports, such as football . (healthychildren.org)
  • Wastes and excess fluids are removed from your blood by your kidneys, which are then excreted in urine. (medicahospitals.in)
  • Diuretics work to help the kidney filter out more fluid into the urine. (healthline.com)
  • Damaging the kidneys means that they can't do their job as well, and more urine is made. (healthline.com)
  • I have had a patient with very large kidneys do PD for years with no complication or discomfort. (medscape.com)
  • So, if a small person and large kidneys, it may be problematic, if a large person may not be a problem. (medscape.com)
  • Polycystic kidney disease affects about one in 1,000 people worldwide. (uni-koeln.de)
  • Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. (wikipedia.org)
  • Polycystic kidney disease is a fairly common genetic disorder. (medlineplus.gov)
  • This form of the disorder occurs most often in people with other types of kidney disease who have been treated for several years with hemodialysis (a procedure that filters waste products from the blood). (medlineplus.gov)
  • Polycystic kidney disease (PKD) is an inherited kidney disorder. (healthline.com)
  • Polycystic kidney disease (PKD) is a rare genetic disorder. (uhhospitals.org)
  • Polycystic kidney disease (PKD) is a kidney disorder passed down through families. (medlineplus.gov)
  • The Polycystic Kidney Disease (PKD) Outcomes Consortium is a successful collaboration between Critical Path Institute (C-Path), the PKD Foundation, Clinical Data Interchange Standards Consortium (CDISC), four leading academic medical centers (Tufts University, University of Colorado Denver, Emory University, and Mayo Clinic), and three pharmaceutical companies. (lotosnile.com)
  • There was marked reduction in size of left kidney and complaints of the patient i.e. pain and burning in loin, scanty urination, distension and flatulence of abdomen subsided. (hpathy.com)
  • His enlarged kidneys caused his abdomen to extend so much that he had trouble bending at the waist. (umms.org)
  • This Funding Opportunity Announcement (FOA) invites applications for Polycystic Kidney Disease (PKD) Research and Translation Core Centers to support both basic and clinical research on PKD. (nih.gov)
  • Those other centers were not offering to remove his brothers' polycystic kidneys and replace them with a living donor kidney in one operation. (umms.org)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • In February 2011, the Centers for Disease Control of a 396-bp fragment of the large segment of the virus from and Prevention (CDC, Atlanta, GA, USA) was notifi ed all 5 persons were identical. (cdc.gov)
  • Dang and colleagues reviewed a total of 377 episodes of kidney cyst infections diagnosed at the Necker-Enfants Malades Hospital between 2000 and 2018. (medscape.com)
  • The simple kidney cyst is different from the cysts that develop when a person has polycystic kidney disease (PKD), a genetic disease. (healthychildren.org)
  • People with PKD have many clusters of cysts in the kidneys. (medlineplus.gov)