An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Na-Cl cotransporter in the convoluted segments of the DISTAL KIDNEY TUBULE. It mediates active reabsorption of sodium and chloride and is inhibited by THIAZIDE DIURETICS.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)
A subclass of symporters found in KIDNEY TUBULES, DISTAL that are the major pathway for salt resorption. Inhibition of these symporters by BENZOTHIADIAZINES is the basis of action of some DIURETICS.
Heterocyclic compounds with SULFUR and NITROGEN in the ring. This term commonly refers to the BENZOTHIADIAZINES that inhibit SODIUM-POTASSIUM-CHLORIDE SYMPORTERS and are used as DIURETICS.
A pathological condition that removes acid or adds base to the body fluids.
A characteristic symptom complex.
A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION.
Membrane transporters that co-transport two or more dissimilar molecules in the same direction across a membrane. Usually the transport of one ion or molecule is against its electrochemical gradient and is "powered" by the movement of another ion or molecule with its electrochemical gradient.
General disorders of the sclera or white of the eye. They may include anatomic, embryologic, degenerative, or pigmentation defects.
Proteins that bind specific drugs with high affinity and trigger intracellular changes influencing the behavior of cells. Drug receptors are generally thought to be receptors for some endogenous substance not otherwise specified.
An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)
A metallic element that has the atomic symbol Mg, atomic number 12, and atomic weight 24.31. It is important for the activity of many enzymes, especially those involved in OXIDATIVE PHOSPHORYLATION.
A quinazoline-sulfonamide derived DIURETIC that functions by inhibiting SODIUM CHLORIDE SYMPORTERS.
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.
Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.

Loss of consciousness and hypokalemia in an elderly man with a mutation of the thiazide-sensitive Na-Cl cotransporter gene. (1/47)

An 80-year-old man was referred to our department for evaluation of repetitive loss of consciousness and faintness with hypokalemia. He had relatively low blood pressure, hypomagnesemia, hypocalciuria and chondrocalcinosis in the knee, clinically suggesting Gitelman's syndrome. A renal clearance study could not be carried out due to the patient's age and complications of the heart. Sequence analysis of the gene of thiazide-sensitive Na-Cl cotransporter (TSC) showed a heterozygous missense mutation from C to T at 1712 base pairs from the translation start site, with resultant changes in codon 569 from alanine to valine (A569V). Treatment with oral administration of potassium chloride improved all the symptoms. Although Gitelman's syndrome has been considered to be autosomal recessive, cases of only heterozygous mutation detected have recently been reported. Therefore, the mutation found in this patient may be responsible for Gitelman's syndrome.  (+info)

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. (2/47)

Gitelman syndrome (GS) is a recessive salt-losing tubulopathy that is caused by mutations in the SLC12A3 gene that encodes the sodium-chloride co-transporter (NCC). GS is characterized by significant inter- and intrafamilial phenotype variability, with early onset and/or severe clinical manifestations in some patients. No correlations between the disease variability and the position/nature of SLC12A3 mutations have been investigated thus far. In this study, extensive mutational analyses of SLC12A3 were performed in 27 patients with GS, including genomic DNA sequencing, multiplex ligation-dependent probe amplification, cDNA analysis, and quantification of allele-specific transcripts, in parallel with functional analyses in Xenopus laevis oocytes and detailed phenotyping. Twenty-six SLC12A3 mutations were identified in 25 patients with GS, including eight novel (detection rate 80%). Transcript analysis demonstrated that splicing mutations of SLC12A3 lead to frameshifted mRNA subject to degradation by nonsense-mediated decay. Heterologous expression documented a novel class of NCC mutants with defective intrinsic transport activity. A subgroup of patients presented with early onset, growth retardation, and/or detrimental manifestations, confirming the potential severity of GS. The mutations that were associated with a severe presentation were the combination at least for one allele of a missplicing resulting in a truncated transcript that was downregulated by nonsense-mediated decay or a nonfunctional, cell surface-absent mutant. The most recurrent mutation on the second allele was a newly described NCC mutant that affected the functional properties of the co-transporter. These data suggest that the nature/position of SLC12A3 mutation, combined with male gender, is a determinant factor in the severity of GS and provide new insights in the underlying pathogenic mechanisms of the disease.  (+info)

TRP channels in kidney disease. (3/47)

Mammalian TRP channel proteins form six-transmembrane cation-permeable channels that may be grouped into six subfamilies on the basis of amino acid sequence homology (TRPC, TRPV, TRPM, TRPA, TRPP, and TRPML). Recent studies of TRP channels indicate that they are involved in numerous fundamental cell functions and are considered to play an important role in the pathophysiology of many diseases. Many TRPs are expressed in kidney along different parts of the nephron and growing evidence suggest that these channels are involved in hereditary, as well as acquired kidney disorders. TRPC6, TRPM6, and TRPP2 have been implicated in hereditary focal segmental glomerulosclerosis (FSGS), hypomagnesemia with secondary hypocalcemia (HSH), and polycystic kidney disease (PKD), respectively. In addition, the highly Ca(2+)-selective channel, TRPV5, contributes to several acquired mineral (dys)regulation, such as diabetes mellitus (DM), acid-base disorders, diuretics, immunosuppressant agents, and vitamin D analogues-associated Ca(2+) imbalance whereas TRPV4 may function as an osmoreceptor in kidney and participate in the regulation of sodium and water balance. This review presents an overview of the current knowledge concerning the distribution of TRP channels in kidney and their possible roles in renal physiology and kidney diseases.  (+info)

A thiazide test for the diagnosis of renal tubular hypokalemic disorders. (4/47)

Although the diagnosis of Gitelman syndrome (GS) and Bartter syndrome (BS) is now feasible by genetic analysis, implementation of genetic testing for these disorders is still hampered by several difficulties, including large gene dimensions, lack of hot-spot mutations, heavy workup time, and costs. This study evaluated in a cohort of patients with genetically proven GS or BS diagnostic sensibility and specificity of a diuretic test with oral hydrochlorothiazide (HCT test). Forty-one patients with GS (22 adults, aged 25 to 57; 19 children-adolescents, aged 7 to 17) and seven patients with BS (five type I, two type III) were studied; three patients with "pseudo-BS" from surreptitious diuretic intake (two patients) or vomiting (one patient) were also included. HCT test consisted of the administration of 50 mg of HCT orally (1 mg/kg in children-adolescents) and measurement of the maximal diuretic-induced increase over basal in the subsequent 3 h of chloride fractional clearance. All but three patients with GS but no patients with BS and pseudo-BS showed blunted (<2.3%) response to HCT; patients with BS and the two patients with pseudo-BS from diuretic intake had increased response to HCT. No overlap existed between patients with GS and both patients with BS and pseudo-BS. The response to HCT test is blunted in patients with GS but not in patients with BS or nongenetic hypokalemia. In patients with the highly selected phenotype of normotensive hypokalemic alkalosis, abnormal HCT test allows prediction with a very high sensitivity and specificity of the Gitelman genotype and may avoid genotyping.  (+info)

Disorders of renal magnesium handling explain renal magnesium transport. (5/47)

Magnesium is essential for bone stability, neuronal excitability, muscular relaxation and many other metabolic functions. Despite its fundamental biological importance, mechanisms controlling systemic magnesium homeostasis are only partially understood. The kidney plays a central role in maintaining magnesium balance as evident from several rare inherited disorders of renal magnesium transport. Recent studies shed new light on molecular mechanisms of renal magnesium handling and its control. Mutations in the claudin 16 (paracellin) paracellular protein in the thick ascending limb (TAL) of Henle's loop and in the transient receptor potential cation channel, subfamily 6, member 6 (TRPM6) magnesium channel expressed in distal tubules found in patients with renal magnesium wasting and hypomagnesemia underscore the importance of these transport proteins. A study by Hou et al (J Biol Chem 2007; 282: 17114-22) demonstrates a pathomechanism for claudin 16 mutations that gives interesting insights into the function of the TAL. Moreover, Groenestege and colleagues report (J Clin Invest 2007; 117: 2260-7) the identification of the epidermal growth factor (EGF) as a hormonal regulator of TRPM6 activity, and thereby explain how mutations in EGF can cause familial hypomagnesemia. Interestingly, cetuximab, a drug used in treatment of certain cancers, acts an inhibitor of the EGF receptor and causes hypomagnesemia which may be due to the inhibition of EGF signaling.  (+info)

Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure. (6/47)

Gitelmans syndrome (GS) is an inherited recessive disorder caused by homozygous or compound heterozygous loss of function mutations of the NaCl cotransporter (NCCT) gene encoding the kidney-expressed NCCT, the pharmacological target of thiazide diuretics. An observational study estimated the prevalence of GS to 19/1,000,000, in Sweden, suggesting that approximately 1% of the population carries one mutant NCCT allele. As the phenotype of GS patients, who always carry two mutant alleles, is indistinguishable from that seen in patients treated with high-dose thiazide diuretics, we aimed at investigating whether subjects carrying one mutated NCCT allele have a phenotype resembling that of treatment with low-dose thiazide diuretics. We screened first-degree relatives of 18 of our patients with an established clinical end genetic diagnosis of GS for NCCT loss of function mutations and identified 35 healthy subjects carrying one mutant allele (GS-heterozygotes). Each GS-heterozygote was assigned a healthy control subject matched for age, BMI and sex. GS-heterozygotes had markedly lower blood pressure (systolic 103.3 +/- 16.4 versus 123.2 +/- 19.4 mmHg; diastolic 62.5 +/- 10.5 versus 73.1 +/- 9.4 mmHg; P < 0.001) than controls. There was no significant difference between the groups either in plasma concentration or urinary excretion rate of electrolytes, however, GS-heterozygotes had higher fasting plasma glucose concentration. Similar to patients being treated with low-dose thiazide diuretics, GS-heterozygotes have markedly lower blood pressure and slightly higher fasting plasma glucose compared with control subjects. Our findings suggest that GS-heterozygotes, the prevalence of which can be estimated to 1%, are partially protected from hypertension through partial genetic loss of function of the NCCT. However, as our study had a case-control design, it is important to underline that any potential effects on population blood pressure and risk of future cardiovascular disease need to be examined in prospective and population-based studies.  (+info)

Absence of vascular remodelling in a high angiotensin-II state (Bartter's and Gitelman's syndromes): implications for angiotensin II signalling pathways. (7/47)

 (+info)

Case-control study of the role of the Gitelman's syndrome gene in essential hypertension. (8/47)

BACKGROUND: Gitelman's syndrome is an inherited tubular disorder characterized by sodium wasting, low blood pressure, secondary hyperaldosteronism, metabolic alkalosis, hypokalemia, hypomagnesemia of renal origin, and hypocalciuria. The majority of patients with this syndrome carry inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive Na (+)-Cl (-) cotransporter (NCC) located in the distal convoluted tubule, which is involved in renal sodium reabsorption. This suggests that the SLC12A3 gene is involved in mediation of blood pressure levels. The aim of the present study was to investigate relationships between single nucleotide polymorphisms (SNPs) in the human SLC12A3 gene and essential hypertension (EH) in Japanese. METHOD: We selected 3 SNPs in the human SLC12A3 gene (T180K, A569V, L849H), and performed a case-control study of 315 EH patients and 305 normotensive (NT) individuals. RESULTS: There was no significant difference in overall distribution of genotypes or alleles of any of the SNPs between the EH and NT groups. CONCLUSION: We conclude that the causal gene of Gitelman's syndrome is not involved in determining blood pressure levels.  (+info)

Gitelman Syndrome is a genetic disorder that affects the electrolyte and fluid balance in the body. It is characterized by low levels of potassium, magnesium, and chloride in the blood due to defects in the function of the distal convoluted tubule in the kidney. This results in increased urinary excretion of these ions.

The condition is caused by mutations in the SLC12A3 gene, which provides instructions for making a protein called thiazide-sensitive sodium chloride cotransporter (NCC). The NCC protein is responsible for reabsorbing sodium and chloride ions from the urine back into the bloodstream. In Gitelman Syndrome, the mutations in the SLC12A3 gene lead to reduced function of the NCC protein, resulting in increased excretion of sodium, chloride, potassium, and magnesium in the urine.

Symptoms of Gitelman Syndrome may include muscle weakness, cramps, spasms, fatigue, salt cravings, thirst, and decreased appetite. The condition is usually diagnosed in childhood or adolescence but can also present in adulthood. Treatment typically involves supplementation with potassium and magnesium to correct the electrolyte imbalances. In some cases, a medication called indapamide may be used to increase sodium reabsorption in the kidney and reduce potassium excretion.

Solute Carrier Family 12, Member 3 (SLC12A3) is a protein that belongs to the solute carrier family, which are membrane transport proteins involved in the movement of various substances across cell membranes. Specifically, SLC12A3 is a member of the electroneutral cation-chloride cotransporter (CCC) family and encodes for the protein known as downregulated in adenoma maturity alpha (DRA).

The DRA protein functions as an apical membrane transporter that mediates the coupled movement of sodium, chloride, and bicarbonate ions across epithelial cells. It is primarily expressed in the colon, where it plays a critical role in maintaining electrolyte homeostasis by facilitating the absorption of sodium and chloride ions from the intestinal lumen into the bloodstream.

Mutations in the SLC12A3 gene have been associated with several human diseases, including congenital chloride diarrhea (CLD), a rare autosomal recessive disorder characterized by chronic watery diarrhea due to excessive loss of sodium and chloride ions.

Bartter syndrome is a rare genetic disorder that affects the kidneys' ability to reabsorb sodium and chloride, leading to an imbalance of electrolytes in the body. This condition is characterized by hypokalemia (low potassium levels), metabolic alkalosis (high pH levels in the blood), and normal or low blood pressure. It can also result in increased urine production, excessive thirst, and growth retardation in children. There are two major types of Bartter syndrome, based on the genes affected: type I caused by mutations in the SLC12A1 gene, and type II caused by mutations in the KCNJ1 gene. Type III is caused by mutations in the CLCNKB gene, while type IV is caused by mutations in the BSND or CLCNKB genes. Treatment typically involves supplementation of electrolytes, such as potassium and magnesium, as well as nonsteroidal anti-inflammatory drugs (NSAIDs) to help reduce sodium loss in the urine.

Hypokalemia is a medical condition characterized by abnormally low potassium levels in the blood, specifically when the concentration falls below 3.5 milliequivalents per liter (mEq/L). Potassium is an essential electrolyte that helps regulate heart function, nerve signals, and muscle contractions.

Hypokalemia can result from various factors, including inadequate potassium intake, increased potassium loss through the urine or gastrointestinal tract, or shifts of potassium between body compartments. Common causes include diuretic use, vomiting, diarrhea, certain medications, kidney diseases, and hormonal imbalances.

Mild hypokalemia may not cause noticeable symptoms but can still affect the proper functioning of muscles and nerves. More severe cases can lead to muscle weakness, fatigue, cramps, paralysis, heart rhythm abnormalities, and in rare instances, respiratory failure or cardiac arrest. Treatment typically involves addressing the underlying cause and replenishing potassium levels through oral or intravenous (IV) supplementation, depending on the severity of the condition.

Sodium chloride symporters are membrane transport proteins that actively co-transport sodium and chloride ions into a cell. They are also known as sodium-chloride cotransporters or NCCs. These transporters play a crucial role in regulating the electrolyte balance and water homeostasis in various tissues, particularly in the kidney's distal convoluted tubule.

The primary function of sodium chloride symporters is to reabsorb sodium and chloride ions from the filtrate in the nephron back into the bloodstream. By doing so, they help maintain the body's sodium concentration and control water balance through osmosis.

Mutations in the gene encoding for the NCC can lead to various kidney disorders, such as Gitelman syndrome or Bartter syndrome type III, which are characterized by electrolyte imbalances, low blood pressure, and metabolic alkalosis.

Thiazides are a class of diuretic drugs that promote the excretion of salt and water from the body by inhibiting the reabsorption of sodium and chloride ions in the distal convoluted tubule of the nephron in the kidney. Chemically, thiazides contain a sulfonamide group and a benzothiadiazine ring.

Thiazide diuretics are widely used in the treatment of hypertension (high blood pressure), heart failure, and edema (fluid retention) associated with various medical conditions such as liver cirrhosis, kidney disease, and nephrotic syndrome. Examples of thiazide diuretics include hydrochlorothiazide, chlorthalidone, indapamide, and metolazone.

It is important to note that while thiazides are effective in reducing fluid volume and blood pressure, they can also cause electrolyte imbalances, including hypokalemia (low potassium levels), hyponatremia (low sodium levels), and hypercalcemia (high calcium levels). Therefore, patients taking thiazide diuretics should be monitored closely for any signs of electrolyte abnormalities.

Alkalosis is a medical condition that refers to an excess of bases or a decrease in the concentration of hydrogen ions (H+) in the blood, leading to a higher than normal pH level. The normal range for blood pH is typically between 7.35 and 7.45. A pH above 7.45 indicates alkalosis.

Alkalosis can be caused by several factors, including:

1. Metabolic alkalosis: This type of alkalosis occurs due to an excess of bicarbonate (HCO3-) in the body, which can result from conditions such as excessive vomiting, hyperventilation, or the use of certain medications like diuretics.
2. Respiratory alkalosis: This form of alkalosis is caused by a decrease in carbon dioxide (CO2) levels in the blood due to hyperventilation or other conditions that affect breathing, such as high altitude, anxiety, or lung disease.

Symptoms of alkalosis can vary depending on its severity and underlying cause. Mild alkalosis may not produce any noticeable symptoms, while severe cases can lead to muscle twitching, cramps, tremors, confusion, and even seizures. Treatment for alkalosis typically involves addressing the underlying cause and restoring the body's normal pH balance through medications or other interventions as necessary.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Lethargy is a state of extreme fatigue, drowsiness, and/or lack of energy. In a medical context, lethargy may refer to a reduced level of consciousness or awareness where an individual has difficulty staying awake or responding to stimuli. It can be a symptom of various medical conditions such as infections, neurological disorders, metabolic imbalances, or psychological issues. However, it is important to note that lethargy should be evaluated by a healthcare professional for proper diagnosis and treatment.

A symporter is a type of transmembrane protein that functions to transport two or more molecules or ions across a biological membrane in the same direction, simultaneously. This process is called co-transport and it is driven by the concentration gradient of one of the substrates, which is usually an ion such as sodium (Na+) or proton (H+).

Symporters are classified based on the type of energy that drives the transport process. Primary active transporters, such as symporters, use the energy from ATP hydrolysis or from the electrochemical gradient of ions to move substrates against their concentration gradient. In contrast, secondary active transporters use the energy stored in an existing electrochemical gradient of one substrate to drive the transport of another substrate against its own concentration gradient.

Symporters play important roles in various physiological processes, including nutrient uptake, neurotransmitter reuptake, and ion homeostasis. For example, the sodium-glucose transporter (SGLT) is a symporter that co-transports glucose and sodium ions across the intestinal epithelium and the renal proximal tubule, contributing to glucose absorption and regulation of blood glucose levels. Similarly, the dopamine transporter (DAT) is a symporter that co-transports dopamine and sodium ions back into presynaptic neurons, terminating the action of dopamine in the synapse.

Scleral diseases refer to conditions that affect the sclera, which is the tough, white outer coating of the eye. The sclera helps to maintain the shape of the eye and provides protection for the internal structures. Scleral diseases can cause inflammation, degeneration, or thinning of the sclera, leading to potential vision loss or other complications. Some examples of scleral diseases include:

1. Scleritis: an inflammatory condition that causes pain, redness, and sensitivity in the affected area of the sclera. It can be associated with autoimmune disorders, infections, or trauma.
2. Episcleritis: a less severe form of inflammation that affects only the episclera, a thin layer of tissue overlying the sclera. Symptoms include redness and mild discomfort but typically no pain.
3. Pinguecula: a yellowish, raised deposit of protein and fat that forms on the conjunctiva, the clear membrane covering the sclera. While not a disease itself, a pinguecula can cause irritation or discomfort and may progress to a more severe condition called a pterygium.
4. Pterygium: a fleshy growth that extends from the conjunctiva onto the cornea, potentially obstructing vision. It is often associated with prolonged sun exposure and can be removed surgically if it becomes problematic.
5. Scleral thinning or melting: a rare but serious condition where the sclera degenerates or liquefies, leading to potential perforation of the eye. This can occur due to autoimmune disorders, infections, or as a complication of certain surgical procedures.
6. Ocular histoplasmosis syndrome (OHS): a condition caused by the Histoplasma capsulatum fungus, which can lead to scarring and vision loss if it involves the macula, the central part of the retina responsible for sharp, detailed vision.

It is essential to consult an ophthalmologist or eye care professional if you experience any symptoms related to scleral diseases to receive proper diagnosis and treatment.

Drug receptors are specific protein molecules found on the surface of cells, to which drugs can bind. These receptors are part of the cell's communication system and are responsible for responding to neurotransmitters, hormones, and other signaling molecules in the body. When a drug binds to its corresponding receptor, it can alter the receptor's function and trigger a cascade of intracellular events that ultimately lead to a biological response.

Drug receptors can be classified into several types based on their function, including:

1. G protein-coupled receptors (GPCRs): These are the largest family of drug receptors and are involved in various physiological processes such as vision, olfaction, neurotransmission, and hormone signaling. They activate intracellular signaling pathways through heterotrimeric G proteins.
2. Ion channel receptors: These receptors form ion channels that allow the flow of ions across the cell membrane when activated. They are involved in rapid signal transduction and can be directly gated by ligands or indirectly through G protein-coupled receptors.
3. Enzyme-linked receptors: These receptors have an intracellular domain that functions as an enzyme, activating intracellular signaling pathways when bound to a ligand. Examples include receptor tyrosine kinases and receptor serine/threonine kinases.
4. Nuclear receptors: These receptors are located in the nucleus and function as transcription factors, regulating gene expression upon binding to their ligands.

Understanding drug receptors is crucial for developing new drugs and predicting their potential therapeutic and adverse effects. By targeting specific receptors, drugs can modulate cellular responses and produce desired pharmacological actions.

Hypokalemic Periodic Paralysis (HPP) is a group of rare inherited disorders characterized by episodes of muscle weakness or paralysis, often associated with low potassium levels in the blood (hypokalemia). During an attack, muscles may become weak or fully paralyzed, typically affecting the legs and arms. The episodes can last from several hours to days. HPP is caused by genetic mutations that affect ion channels in muscle cells, leading to an imbalance of electrolytes and impaired muscle function. There are two main types: primary (or classic) HPP and secondary HPP. Primary HPP is further divided into thyrotoxic HPP and normokalemic HPP. Secondary HPP can be caused by various factors, such as medications or underlying medical conditions that cause hypokalemia.

Magnesium is an essential mineral that plays a crucial role in various biological processes in the human body. It is the fourth most abundant cation in the body and is involved in over 300 enzymatic reactions, including protein synthesis, muscle and nerve function, blood glucose control, and blood pressure regulation. Magnesium also contributes to the structural development of bones and teeth.

In medical terms, magnesium deficiency can lead to several health issues, such as muscle cramps, weakness, heart arrhythmias, and seizures. On the other hand, excessive magnesium levels can cause symptoms like diarrhea, nausea, and muscle weakness. Magnesium supplements or magnesium-rich foods are often recommended to maintain optimal magnesium levels in the body.

Some common dietary sources of magnesium include leafy green vegetables, nuts, seeds, legumes, whole grains, and dairy products. Magnesium is also available in various forms as a dietary supplement, including magnesium oxide, magnesium citrate, magnesium chloride, and magnesium glycinate.

Metolazone is a medication that belongs to a class of diuretics known as "thiazide-like" diuretics. According to the US National Library of Medicine's MedlinePlus, metolazone works by helping your body get rid of extra salt and water by increasing the amount of urine you produce. This medication is primarily used to treat high blood pressure and fluid buildup due to heart failure.

It is important to note that while I strive to provide accurate information, this definition is intended to be a general summary and may not cover all aspects of the medical term. Therefore, it is always recommended to consult with a healthcare professional or refer to reputable medical resources for detailed and personalized information.

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.

Inborn errors of renal tubular transport refer to genetic disorders that affect the normal functioning of the kidney tubules. The kidney tubules are responsible for the reabsorption and secretion of various substances, including electrolytes and nutrients, as urine is formed. Inherited defects in the proteins that mediate these transport processes can lead to abnormal levels of these substances in the body and may result in a variety of clinical symptoms.

These disorders can affect different parts of the renal tubule, including the proximal tubule, loop of Henle, distal tubule, and collecting duct. Depending on the specific transporter affected, inborn errors of renal tubular transport can present with a range of clinical manifestations, such as electrolyte imbalances, acid-base disorders, growth retardation, kidney stones, nephrocalcinosis, or even kidney failure.

Examples of inborn errors of renal tubular transport include:

1. Distal renal tubular acidosis (dRTA): A genetic disorder that affects the ability of the distal tubule to acidify urine, leading to metabolic acidosis, hypokalemia, and nephrocalcinosis.
2. Bartter syndrome: A group of autosomal recessive disorders characterized by impaired sodium reabsorption in the loop of Henle, resulting in hypokalemia, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
3. Gitelman syndrome: An autosomal recessive disorder caused by a defect in the thiazide-sensitive sodium chloride cotransporter in the distal tubule, leading to hypokalemia, metabolic alkalosis, and hypocalciuria.
4. Liddle syndrome: An autosomal dominant disorder characterized by increased sodium reabsorption in the collecting duct due to a gain-of-function mutation in the epithelial sodium channel (ENaC), resulting in hypertension, hypokalemia, and metabolic alkalosis.
5. Dent disease: An X-linked recessive disorder caused by mutations in the CLCN5 gene, which encodes a chloride channel in the proximal tubule, leading to low molecular weight proteinuria, hypercalciuria, and nephrolithiasis.
6. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): An autosomal recessive disorder caused by mutations in the CLCN5 or CLDN16 genes, which encode chloride channels in the thick ascending limb of Henle's loop, resulting in hypomagnesemia, hypercalciuria, and nephrocalcinosis.

... those affected by Gitelman syndrome generally have low or normal blood pressure. Individuals affected by Gitelman syndrome ... as well as examples of how they can differ from classic Gitelman syndrome. In Gitelman syndrome hypocalciuria is present, and a ... Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these ... A person with Gitelman syndrome has a low probability of passing the disease to their offspring. This chance is roughly 1 in ...
However, in some patients with Gitelman's syndrome, no mutations in the NCC gene have been found despite extensive genetic work ... 2009). "A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome". Pediatr. Res. 66 (5): 590-3. doi:10.1203/PDR. ... A loss of NCC function causes Gitelman syndrome, an autosomic recessive disease characterized by salt wasting and low blood ... A loss of NCC function is associated with Gitelman syndrome, an autosomic recessive disease characterized by salt wasting and ...
Prenatal Bartter syndrome can be associated with polyhydramnios. Bartter and Gitelman syndromes are both characterized by low ... There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than ... Pseudo-Bartter's syndrome is a syndrome of similar presentation as Bartter syndrome but without any of its characteristic ... Bartter and Gitelman syndromes can be divided into different subtypes based on the genes involved: People with Bartter syndrome ...
Mutations in NCC cause the recessive Gitelman syndrome. NCC is a dimer in the membrane. It is regulated by RasGRP1. The ...
It is also common in patients with Gitelman syndrome. Kazerooni, T (2003). "Calcium to creatinine ratio in a spot sample of ... "Hypocalciuria in Patients with Gitelman Syndrome: Role of Blood Volume". American Journal of Kidney Diseases. 49 (5): 693-700. ...
February 2022). "Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA". Journal of the American Society of Nephrology ... Hypercalciuric hypomagnesemic syndromes, which encompass the syndromes caused by mutations in CLDN16, CLDN19, CASR or CLCNKB. ... stimulates kidney excretion Mycophenolate mofetil Gitelman-like diseases, which include the syndromes caused by genetic ... Mutations in SARS2, or mitochondrial DNA deletions as seen with Kearns-Sayre syndrome, can also cause hypomagnesemia. Other ...
Examples of these disorders include Iminoglycinuria, renal tubular acidosis and Gitelman syndrome. v t e (Articles with short ...
These conditions can be referred to syndromes such as Bartter Syndrome and Gitelman Syndrome. Treatment includes removing the ... Other causes can come from the tubules: low reabsorption of sodium (as seen in Bartter and Gitelman syndromes) will lead to ... Seyberth, Hannsjörg W.; Schlingmann, Karl P. (October 2011). "Bartter- and Gitelman-like syndromes: salt-losing tubulopathies ... acidosis Secondary hyperaldosteronism can also be a symptom of genetic conditions Bartter's Syndrome and Gitelman's Syndrome.[ ...
"Gitelman's Syndrome (Familial Hypokalemia-Hypomagnesemia)," Journal of Nephrology, June 2001. "22q13 Deletion Syndrome with ... This syndrome is now known as Barakat Syndrome. Barakat syndrome is an inherited condition characterized by hypoparathyroidism ... Barakat syndrome revisited. Am J Med Genet Part A. 2018; Barakat syndrome revisited Barakat AJ. Renal Disease: Clinical ... Dictionary of Medical Syndromes, 4th edition, Philadelphia: J.B. Lippencott-Raven, 1997, p 73. Gene Map Locus: 10pter-p13 or ...
Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome Shanti ... "Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome". American ...
A disease that is caused by a loss-of-function mutation is Gitelman syndrome and cystic fibrosis. Gain-of-function mutations ... Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency. Lethal mutations result in the instant ... Atopic eczema and dermatitis syndrome are common diseases caused by a null mutation of the gene that activates filaggrin. ... Ellis NA, Ciocci S, German J (February 2001). "Back mutation can produce phenotype reversion in Bloom syndrome somatic cells". ...
2004). "A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes". Kidney Int. 63 (1 ... 2002). "Bartter syndrome type 3: an unusual cause of nephrolithiasis". Nephrol. Dial. Transplant. 17 (3): 521-3. doi:10.1093/ ... 2000). "Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome". J. Am. Soc. Nephrol. 11 (8): ... Mutations in CLCNKB result in the autosomal recessive Type III Bartter syndrome. CLCNKA and CLCNKB are closely related (94% ...
Gitelman syndrome Bartter syndrome Liddle's syndrome Orphanet, EAST syndrome (ORPHA199343), retrieved 2016-06-23. OMIM, ... The salt wasting tubulopathy of EAST syndrome most closely resembles that of Gitelman syndrome which is the most common ... Syndromes affecting the nervous system, Syndromes affecting the kidneys, Syndromes with sensorineural hearing loss). ... EAST syndrome is also called SeSAME syndrome, as a syndrome of seizures, sensorineural deafness, ataxia, intellectual ...
Periodic Paralysis Adenosine-Deaminase Deficiency Gitelman Syndrome Lowe Syndrome Treatment of Lightwood-Albright syndrome is ... It is also known as Lightwood Syndrome, Butler-Albright Syndrome, or Lightwood-Butler-Albright Syndrome. It is named for ... Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019), "Albright-Butler Syndrome", Syndromes: Rapid Recognition and ... "Lightwood Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education, ...
Chrétien syndrome, Gitelman syndrome, and Liddle syndrome can cause secondary aldosteronism or pseudohyperaldosteronism. The ... Conn's syndrome is named after Jerome W. Conn (1907-1994), an American endocrinologist who first described adenomas as a cause ... "Hyperaldosteronism (Conn's Syndrome)". Columbia Adrenal Center. Archived from the original on 2011-05-26. "Spark-PA - Spark-PA ... In Conn syndrome, these actions cause increased extracellular sodium and fluid volume and reduced extracellular potassium. ...
Rare hereditary defects of renal salt transporters, such as Bartter syndrome or Gitelman syndrome, can cause hypokalemia, in a ... These include renal artery stenosis and tumors (generally nonmalignant) of the adrenal glands, e.g., Conn's syndrome (primary ... This deficiency-known as apparent mineralocorticoid excess syndrome-can either be congenital or caused by consumption of ... blood pressure is either normal or low in Bartter's or Gitelman's. In addition to alkalosis, other factors can cause transient ...
Soviet army officer Hana Gitelman Gitelman syndrome This page lists people with the surname Gitelman. If an internal link ... Gitelman is a surname. Notable people with the surname include: Fred Gitelman (born 1965), Canadian-American bridge player ...
Metabolic alkalosis with hypokalemia like Gitelman syndrome and Bartter's syndrome can cause tetany. Vomiting induced alkalosis ... ISBN 978-1-4160-4574-8. Grobin, W (May 14, 1960). "A New Syndrome, Magnesium-Deficiency Tetany". Canadian Medical Association ...
Gitelman, SE (5 May 2005). "Nephrogenic syndrome of inappropriate antidiuresis". The New England Journal of Medicine. 352 (18 ... Because not all people with this syndrome have elevated levels of vasopressin, the term "syndrome of inappropriate antidiuresis ... Schwartz-Bartter syndrome at Who Named It? Feldman, BJ; Rosenthal, SM; Vargas, GA; Fenwick, RG; Huang, EA; Matsuda-Abedini, M; ... Cerebral salt wasting syndrome (CSWS) also presents with hyponatremia, there are signs of dehydration for which reason the ...
Some diseases, including Gitelman syndrome and the salt-wasting variant of Congenital adrenal hyperplasia, impair the kidney's ...
... a liver enzyme disorder which can cause elevated levels of serum bilirubin Gitelman syndrome, an autosomal recessive kidney ... a subtype of G-protein coupled receptors Gilbert's syndrome, ...
... the EAST syndrome (Gitelman syndrome phenotype) reflecting roles for KCNJ10 gene products in the brain, inner ear and kidney. ... Rett syndrome is a neurological disorder characterized by a mutation in the MeCP2 gene. This mutation results in less MeCP2. ... GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4 KCNJ10+protein,+human at the U.S. National Library of Medicine Medical ... Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. ...
Low levels of magnesium in the blood Severely high levels of calcium in the blood Bartter syndrome and Gitelman syndrome - ... syndromes with presentations analogous to taking diuretics characterized with normotensive patients Liddle syndrome - a gain of ... Milk alkali syndrome Blood product administration since this contains sodium citrate which is then metabolized into sodium ... Hyperaldosteronism - Loss of hydrogen ions in the urine occurs when excess aldosterone (Conn's syndrome) increases the activity ...
Bartter's syndrome Gitelman syndrome Hypomagnesemia Hypocalcemia Konrad M, Schlingmann K, Gudermann T (2004). "Insights into ...
American nephrologist who described Gitelman Syndrome Hillel Furstenberg (born 1935), American-Israeli mathematician Hillel ... Polish-Israeli founder and rosh yeshiva of Yeshivas Knesses Hagedolah Hillel Jonathan Gitelman (1932-2015), ...
... atrophy of the choroid and retina Gitelman syndrome Gittings syndrome Glanzmann thrombasthenia Glass-Chapman-Hockley syndrome ... Goldstein-Hutt syndrome Gollop-Coates syndrome Gollop syndrome Goltz syndrome Gombo syndrome Gomez and López-Hernández syndrome ... syndrome Gardner-Silengo-Wachtel syndrome Gardner-Diamond syndrome Gardner's syndrome Garret-Tripp syndrome Gas/bloat syndrome ... Jensen syndrome Gorlin-Chaudhry-Moss syndrome Gottron's syndrome Gougerot-Blum syndrome Gougerot-Sjogren syndrome Gout Gouty ...
Pseudogout Wilson disease Hemochromatosis Ochronosis Hypophosphatasia Hypothyroidism Hyperoxalemia Acromegaly Gitelman syndrome ...
Gitelman A, Hishmeh S, Morelli BN, Joseph SA, Casden A, Kuflik P, et al. (November 2008). "Cauda equina syndrome: a ... Cauda equina syndrome can occur during pregnancy due to lumbar disc herniation. The risk of cauda equina syndrome during ... Eck JC (11 May 2007). "Cauda Equina Syndrome Causes". Cauda Equina Syndrome. WebMD. Retrieved 25 April 2009. Brian (2021-10-12 ... The management of true cauda equina syndrome frequently involves surgical decompression. When cauda equina syndrome is caused ...
... syndrome Gillespie syndrome Gitelman syndrome Gleich's syndrome GMS syndrome Goldberg-Shprintzen syndrome Goldenhar syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
PRNP Ghosal syndrome; 231095; TBXAS1 Giant axonal neuropathy-1; 256850; GAN Gillespie syndrome; 206700; PAX6 Gitelman syndrome ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
... those affected by Gitelman syndrome generally have low or normal blood pressure. Individuals affected by Gitelman syndrome ... as well as examples of how they can differ from classic Gitelman syndrome. In Gitelman syndrome hypocalciuria is present, and a ... Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these ... A person with Gitelman syndrome has a low probability of passing the disease to their offspring. This chance is roughly 1 in ...
... Am J Nephrol. 2014;39(4):357-66. doi: 10.1159/000360773. ... Background/aims: Normomagnesemia is considered atypical in Gitelman syndrome (GS). Here, we describe clinical, pathological and ...
... On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a ... Ranked list of diseases related to "gitelman syndrome"Drugs, active principles and "gitelman syndrome"Medicinal plantsQuestions ... In contrast with bartter syndrome, gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by ... Gitelman syndrome. An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL kidney ...
Buy or learn about Gitelman Syndrome in Florida ... Gitelman Syndrome in Florida Find Gitelman Syndrome in Florida ...
Bartter Syndrome and Gitelman Syndrome - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals ... Bartter Syndrome and Gitelman Syndrome (Bartters Syndrome; Gitelmans Syndrome). By Christopher J. LaRosa , MD, Perelman ... Some Differences Between Bartter Syndrome and Gitelman Syndrome Some Differences Between Bartter Syndrome and Gitelman Syndrome ... In Bartter syndrome, the defect is in the ascending thick limb of the loop of Henle. In Gitelman syndrome, the defect is in the ...
Gitelmans syndrome, see Gitelman syndrome. *GLA deficiency, see Fabry disease. *Glanzmann disease, see Glanzmann ... Giedion-Langer syndrome, see Trichorhinophalangeal syndrome type II. *Gifford-Bosma syndrome, see Bosma arhinia microphthalmia ... Glucose transporter protein syndrome, see GLUT1 deficiency syndrome. *Glucose transporter type 1 deficiency syndrome, see GLUT1 ... Garland-Moorhouse syndrome, see Marinesco-Sjögren syndrome. *Gastrointestinal stromal neoplasm, see Gastrointestinal stromal ...
Compared with Bartter syndrome, Gitelman syndrome generally is milder and presents later; in addition, Gitelman syndrome is ... Hypocalciuria is also frequently found in Gitelman syndrome, while patients with Bartter syndrome are more likely to have ... Bartters and Gitelmans syndromes: from gene to clinic. Nephron Physiol. 2004. 96(3):p65-78. [QxMD MEDLINE Link]. ... Gitelman syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis and low blood pressure. ...
Bartter syndrome. *Gitelman syndrome. *Liddle syndrome. *glucocorticoid remediable aldosteronism. *apparent mineralocorticoid ...
Parmar MS, Bashir K. Gitelman Syndrome. 2019 May 4. StatPearls [Internet].Treasure Island (FL): StatPearls Publishing; 2019 Jan ... Parmar MS, Bashir K. Gitelman Syndrome. 2018 Dec 2. StatPearls [Internet].Treasure Island (FL): StatPearls Publishing; 2018 Jan ... MS Parmar, Khalid Bashir; "Gitelman Syndrome", StatPearls Publishing; January 2021, PMID# 29083583. 2021 ... Khalid Bashir; "Alports Syndrome"; 5 Minute consult, May 2018. 2018. *5 Minute clinical Consult. Naureen Rafiq, Khalid Bashir ...
Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a ... A Report on a Family with TMTC3-Related Syndrome and Review. Sayeeda Hana , Deepak karthik , ... , André Megarbane ... Atypical Presentation of Anti-Phospholipid Antibody Syndrome with Seizure and Atrial Mass. Rajish Sanjit Kumar Shil , Amal ...
Tarsal tunnel syndrome Traumatic nerve compression Erythromelalgia Chronic mountain sickness Gitelman syndrome ... Grierson-Goepalan Syndrome, also known as "Burning feet syndrome (BFS)", is characterized by burning and heaviness in the feet ... 1.0 1.1 1.2 Makkar RP, Arora A, Monga A, Gupta AK, Mukhopadhyay S. Burning feet syndrome. A clinical review. Aust Fam Physician ... Grierson-Gopalan syndrome was first described by Grierson, in 1826, the earliest to document such a symptom, but Gopalan later ...
Low blood pressure suggests diuretic abuse or a renal tubular disorder such as Bartter syndrome, Gitelman syndrome, or renal ... Look at the acid-base balance; alkalosis suggests vomiting, Bartter syndrome, Gitelman syndrome, diuretic abuse, or ... Acidosis suggests renal tubular acidosis types I or II, or Fanconi syndrome (as is observed with paraproteinemias, amphotericin ... An elevated blood pressure suggests primary hyperaldosteronism, Cushing syndrome, congenital adrenal hyperplasia, ...
Bartter syndrome, primary hyperoxaluria and cystinuria, in patients attending kidney stone clinics is ∼15%. However, for the ... Seyberth, H. W. & Schlingmann, K. P. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. ... A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N. Engl. J. Med. 335 ... Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. Clin. J. Am. Soc. Nephrol. 3, 1430-1436 (2008). ...
2) Gitelman syndrome presenting as Hypokalaemic Periodic Paralysis. The Internet Journal of Endocrinology. (ISSN: 1540-2606) ... 3) 4 A Syndrome. American Journal of Case Reports(ICID: 865123) 2008; 9.. 4) Central obesity but not generalized obesity ...
Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings. van der Merwe PD, Rensburg ...
Pathogenic variants in mtDNA causing a Gitelman-like syndrome brings together understanding and the identification of biallelic ... The identification of biallelic variants that are related to hypokalemic syndrome can fortify tubular potassium channel ... De novo heterozygous variant discovery can bring hypokalemic and hypomagnesemic kidney syndromes with dilated cardiomyopathy ... and response criteria in myelodysplastic syndromes, but additional efforts are needed to improve these, and there remains a ...
Gitelmans syndrome, a rare autosomal recessive renal disorder causes hypokalemia, metabolic alkalosis and hypomagnesaemia. ... We present a case of Gitelmans syndrome with symptomatic OTVT as initial manifestation. ... Monomorphic Outflow Tract Ventricular Tachycardia: Unique Presenting Manifestation of Gitelman s Syndrome. ...
A case of Gitelman s syndrome, a variant of Bartter s syndrome ... Conn s syndrome: should all patients undergo adrenal vein ... MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) and thyrotoxicosis ... A novel syndrome of extreme insulin resistance, primordial dwarfism, and gonadal failure ... Delayed onset hungry bone syndrome following parathyroidectomy in a patient taking high dose cinacalcet for primary ...
It reenters the kidney cortex and forms the convoluted segments of the distal tubule. Gitelman Syndrome. (DCT). *Location of ... syndrome.. *Hypervolemia: an increase in ECF volume that occurs due to an increase in total body Na+. Clinical presentation ... Liddle Syndrome. ) on the lumen side: allow Na+ reabsorption from the lumen into the principal cells Principal cells Tubular ... Crush Syndrome. → elevated BUN → ↑ plasma Plasma The residual portion of blood that is left after removal of blood cells by ...
The Edema Syndromes. Thomas E. Andreoli. 11:45 - 12:30. Bartters and Gitelmans syndrome ...
She has Gitelman Syndrome (GS), a condition that causes her kidneys to filter out important chemicals the body needs to ...
Bartter syndrome, Gitelman syndrome, Liddle syndrome, etc.). As for extrarenal K loss, that can be caused by prolonged poor ... Increased extracellular shift can be seen in crush syndrome, increased catabolism, infection, and severe acidosis. Most chronic ... MIA syndrome). Nephrol. Dial. Transpl. 2000, 15, 953-960. [Google Scholar] [CrossRef][Green Version] ... Maxi-K channels contribute to urinary potassium excretion in the ROMK deficient mouse model of type H bartters syndrome and in ...
2017 Mar Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. BACKGROUND: Gitelman syndrome (GS ...
Kaylee was given a service dog named Mitzee to help manage her rare combination Type 1 Diabetes and Gitelman Syndrome. ...
Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a ... Podocyte directed therapy of nephrotic syndrome-can we bring the inside out?. Authors: Janina Müller-Deile, Mario Schiffer ... Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney disorders, and include autosomal recessive ... NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.. N ...
Title: Monomorphic Outflow Tract Ventricular Tachycardia: Unique Presenting Manifestation of Gitelman s Syndrome ... Title: Use of Ivabradine in Postural Orthostatic Tachycardia Syndrome. Credits: Jamil-Copley S, MRCP, Nagarajan DV, MRCP, Baig ... Title: Impact of metabolic syndrome on ablation-outcome in patients with atrial fibrillation: A systematic review ... Heywood s research interest include Cardiorenal Syndrome, Implantable Hemodynamic Monitors and Heart Failure with Preserved ...
Bartter syndrome and Gitelman syndrome. Metabolic alkalosis can be corrected partially with potassium supplementation, ... Syndrome of apparent mineralocorticoid excess. Metabolic alkalosis in the syndrome of AME may be treated with potassium-sparing ... Liddle syndrome. Metabolic alkalosis can be treated with amiloride or triamterene but not with spironolactone. Both amiloride ... Cushing syndrome. Potassium-sparing diuretics should correct the alkalosis until surgical therapy is performed. Definitive ...
Gitelman SE: Nephrogenic syndrome of inappropriate antidiuresis. N Engl J Med. 2005 May 5;352(18):1884-90. [PubMed:15872203 ] ...
Gitelmans Syndrome: A Rare Cause of Severe Hypokalemia. Gitelmans syndrome which is characterized by hyperreninemic ... However, hypocalciuria and hypomagnesemia are diagnostic for Gitelmans syndrome. The symptoms of Gitelmans syndrome did not ... normal blood pressure and metabolic alkalosis suggest Gitelmans syndrome or Bartter syndrome. ... After clinical and laboratuary evaluation, patient was diagnosed to have Gitelmans syndrome and supplementation of potassium ...
  • In contrast with bartter syndrome , gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive sodium-potassium-chloride symporters . (lookfordiagnosis.com)
  • In Gitelman syndrome, hypomagnesemia and a low urinary calcium excretion are common. (msdmanuals.com)
  • These transport mechanisms play a role in familial hypokalemia-hypomagnesemia or Gitelman syndrome. (medscape.com)
  • Gitelman's syndrome which is characterized by hyperreninemic hyperaldosteronism, hypokalemia, hypochloremic metabolic alkalosis, hypomagnesemia and hypocalciuria is caused by a defect in thiazide sensitive Na-Cl co-transporter in renal distal tubules. (ichastaliklaridergisi.org)
  • However, hypocalciuria and hypomagnesemia are diagnostic for Gitelman's syndrome. (ichastaliklaridergisi.org)
  • Some hereditary renal diseases are also frequently associated with hypomagnesemia such as salt losing tubulopathies: classic Bartter syndrome, Gitelman syndrome, EAST syndrome, renal cysts and diabetes syndrome and autosomal dominant hypocalcemia. (blueprintgenetics.com)
  • Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these disorders were identified. (wikipedia.org)
  • Treatment consists of nonsteroidal anti-inflammatory drugs (for Bartter syndrome) and electrolyte replacement. (msdmanuals.com)
  • In Bartter syndrome, the defect is in the ascending thick limb of the loop of Henle. (msdmanuals.com)
  • In Bartter syndrome, there is increased prostaglandin secretion as well as a urinary concentrating defect due to impaired generation of the medullary concentration gradient. (msdmanuals.com)
  • Of note, there is an X-linked mutation in the MAGED2 gene, which can cause severe antenatal Bartter syndrome that is transient and resolves by 1 to 2 years of life. (msdmanuals.com)
  • Bartter syndrome tends to manifest prenatally or during infancy or early childhood. (msdmanuals.com)
  • Bartter syndrome can manifest prenatally with intrauterine growth restriction and polyhydramnios. (msdmanuals.com)
  • Children with Bartter syndrome, more so than those with Gitelman syndrome, may be born prematurely and may have poor growth and development postnatally, and some children have intellectual disability. (msdmanuals.com)
  • Low blood pressure suggests diuretic abuse or a renal tubular disorder such as Bartter syndrome, Gitelman syndrome, or renal tubular acidosis. (medscape.com)
  • Despite oral potassium replacement therapy, his serum potassium levels were between 1.5-2.1 mmol/L. Hyperreninemia in a patient with hypokalemia, normal blood pressure and metabolic alkalosis suggest Gitelman's syndrome or Bartter syndrome. (ichastaliklaridergisi.org)
  • Bartter syndrome (BS) is a rare autosomal recessive disorder of salt reabsorption at the thick ascending limb of the Henle loop, characterized by hypokalemia, salt loss, metabolic alkalosis, hyperreninemic hyperaldosteronism with normal blood pressure. (biomedcentral.com)
  • Bartter syndrome (BS) and Gitelman syndrome (GS) are rare autosomal salt-losing tubulopathies, characterized by hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism with normal blood pressure and juxtaglomerular apparatus cell hyperplasia [ 1 ]. (biomedcentral.com)
  • These include Bartter syndrome and Gitelman syndrome. (goldcoastmedicalwellness.com)
  • CONCLUSIONS: HRTD (most commonly distal RTA and Bartter syndrome) could be relatively common among Egyptian children, and the diagnosis seems challenging and often delayed. (bvsalud.org)
  • INTRODUCTION: Pseudo-Bartter syndrome (PBS) is a rare manifestation of Cystic fibrosis (CF) and can often be the initial presentation in these patients, however, due to significantly overlapping symptoms it is often misdiagnosed as simple dehydration or Bartter syndrome. (bvsalud.org)
  • CONCLUSION: Pseudo-Bartter syndrome can be a presenting feature of cystic fibrosis. (bvsalud.org)
  • GH deficiency (GHD) has been reported in a few cases of Bartter syndrome. (bvsalud.org)
  • The aim of our study was to determine the prevalence of GHD in children with antenatal Bartter syndrome and to assess their response to GH therapy. (bvsalud.org)
  • Methods Ten patients aged 1.5-14.5 years and diagnosed with antenatal Bartter syndrome were enrolled. (bvsalud.org)
  • Bartter syndrome is a rare metabolic 3rd percentile for age. (who.int)
  • Case report the calcium level was in the upper nor- Bartter syndrome, originally described mal range at presentation, which might by Bartter et al. (who.int)
  • Birth diagnosis of neonatal Bartter syndrome childhood but the diagnosis can be weight was 3.5 kg. (who.int)
  • 3]. In the latter, when no cause can eases such as Bartter syndrome, in which vious siblings have suffered from the be identified (e.g. vomiting, diarrhoea, the majority of patients present with disorder [4]. (who.int)
  • With early diagnosis and abuse of diuretics or laxatives), the con- failure to thrive, vomiting and constipa- proper treatment Bartter syndrome has ditions to be differentiated are Bartter tion during the first 2 years of life [6]. (who.int)
  • neonatal Bartter syndrome have similar directed to correct dehydration and This syndrome is reported because presenting symptoms but different pres- electrolyte imbalance. (who.int)
  • Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney disorders, and include autosomal recessive steroid-resistant nephrotic syndrome, which is characterized by early childhood onset of proteinuria, rapid progression to end-stage renal disease and focal segmental glomerulosclerosis. (scienceopen.com)
  • Gitelman syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis and low blood pressure. (medscape.com)
  • Gitelman's syndrome, a rare autosomal recessive renal disorder causes hypokalemia, metabolic alkalosis and hypomagnesaemia. (jafib.com)
  • Metabolic alkalosis in the syndrome of AME may be treated with potassium-sparing diuretics. (medscape.com)
  • Evidence for biallelic pathogenic LAMA5 has emerged to suggest there is a causative relationship in various glomerular phenotypes, including nonsyndromic nephrotic syndromes and syndromic complex kidney phenotypes. (ajmc.com)
  • NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (scienceopen.com)
  • Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. (wikipedia.org)
  • Clinical signs of Gitelman syndrome include a high blood pH in combination with low levels of chloride, potassium, and magnesium in the blood and decreased calcium excretion in the urine. (wikipedia.org)
  • BACKGROUND: Gitelman syndrome (GS) is a rare recessively inherited renal tubulopathy associated with renal potassium (K) and magnesium (Mg) loss. (jostchemical.com)
  • After clinical and laboratuary evaluation, patient was diagnosed to have Gitelman's syndrome and supplementation of potassium citrate (4.34 gr/day), potassium carbonate (4 gr/day) and magnesium citrate (1.8 gr/day). (ichastaliklaridergisi.org)
  • In Gitelman syndrome, the defect is in the distal tubule. (msdmanuals.com)
  • De novo heterozygous variant discovery can bring hypokalemic and hypomagnesemic kidney syndromes with dilated cardiomyopathy together. (ajmc.com)
  • we named the virus Kedah fatal kidney syndrome virus (KFKSV). (cdc.gov)
  • We present a case of Gitelman's syndrome with symptomatic OTVT as initial manifestation. (jafib.com)
  • The symptoms of Gitelman's syndrome did not correlate with the degree of laboratory abnormalities. (ichastaliklaridergisi.org)
  • In both syndromes, the impairment of sodium chloride reabsorption causes mild volume depletion, which leads to increases in renin and aldosterone release, resulting in potassium and hydrogen losses. (msdmanuals.com)
  • The identification of biallelic variants that are related to hypokalemic syndrome can fortify tubular potassium channel understanding and further link to extrarenal phenotypes. (ajmc.com)
  • Of note, some patients, especially those with Gitelman syndrome, are asymptomatic and diagnosed incidentally after blood tests are done. (msdmanuals.com)
  • Individuals affected by Gitelman syndrome often complain of severe muscle cramps or weakness, numbness, thirst, waking up at night to urinate, salt cravings, abnormal sensations, chondrocalcinosis, or weakness expressed as extreme fatigue or irritability. (wikipedia.org)
  • identified a subset of individuals with Gitelman syndrome with a severe phenotypic expression. (wikipedia.org)
  • BFS is identify by a group of symptoms that can identify the likelihood of having Grierson-Gopalan Syndrome, including testing reflexes and identifying signs of infection. (physio-pedia.com)
  • Other identified disorders were Fanconi syndrome (6 cases with cystinosis), isolated proximal RTA (4 cases), nephrogenic diabetes insipidus (3 cases), and one case for each RTA type IV and Gitelman syndrome. (bvsalud.org)
  • Most children showed marked improvement in growth parameters in response to appropriate management, except for cases with Fanconi syndrome. (bvsalud.org)
  • Pathogenic variants in mtDNA causing a Gitelman-like syndrome brings together understanding and the identification of biallelic variants. (ajmc.com)
  • Through a gift to the Hilton Butler Foundation, Kaylee was given a service dog named Mitzee to help manage her rare combination Type 1 Diabetes and Gitelman Syndrome. (williams.com)
  • Quality of life is decreased in Gitelman syndrome Phenotypic variations observed among patients probably result from differences in their genetic background and may depend on which particular amino acid in the NCCT protein has been mutated. (wikipedia.org)
  • Perhaps the most common complication is nephritic syndrome, in which proteins and red blood cells leak into the urine through holes in certain cells in the glomeruli. (thehealthboard.com)
  • Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these disorders were identified. (wikipedia.org)
  • Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. (nih.gov)
  • Identification of the gene defects in Bartter syndrome and Gitelman syndrome. (kcl.ac.uk)
  • Treatment consists of nonsteroidal anti-inflammatory drugs (for Bartter syndrome) and electrolyte replacement. (msdmanuals.com)
  • In Bartter syndrome, the defect is in the ascending thick limb of the loop of Henle. (msdmanuals.com)
  • In Bartter syndrome, there is increased prostaglandin secretion as well as a urinary concentrating defect due to impaired generation of the medullary concentration gradient. (msdmanuals.com)
  • Of note, there is an X-linked mutation in the MAGED2 gene, which can cause severe antenatal Bartter syndrome that is transient and resolves by 1 to 2 years of life. (msdmanuals.com)
  • Bartter syndrome tends to manifest prenatally or during infancy or early childhood. (msdmanuals.com)
  • Bartter syndrome can manifest prenatally with intrauterine growth restriction and polyhydramnios. (msdmanuals.com)
  • Children with Bartter syndrome, more so than those with Gitelman syndrome, may be born prematurely and may have poor growth and development postnatally, and some children have intellectual disability. (msdmanuals.com)
  • Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. (orpha.net)
  • and autosomal dominant hypocalcemia with Bartter syndrome (patients with genotype V, see this term), associating chronic hypocalcemia and tubular salt wasting, hypokalemia and alkalosis. (orpha.net)
  • Bartter syndrome results from a defect in sodium, potassium and chloride reabsorption at the level of Henle's loop. (orpha.net)
  • Hypocalcemia is observed in Bartter syndrome type V. Genetic testing provides the definite diagnosis. (orpha.net)
  • The differential diagnosis includes pseudo-Bartter syndrome (diuretic abuse, surreptitious vomiting), Gitelman syndrome, cystic fibrosis and celiac disease (see these terms). (orpha.net)
  • Bartter syndrome is a rare metabolic renal tubular disorder characterized by hypokalaemic, hypochloraemic metabolic alkalosis, normal blood pressure, hyper-reninaemia and increased urinary loss of sodium, potassium and chloride [1]. (who.int)
  • At this stage a diagnosis of neonatal Bartter syndrome was considered in view of persistent hypokalaemia and metabolic alkalosis in a baby with failure to thrive and polyuria. (who.int)
  • Bartter syndrome, originally described by Bartter et al. (who.int)
  • Classic and neonatal Bartter syndrome have similar presenting symptoms but different presentation ages, Gitelman syndrome is found in late childhood or adolescence and has the classic hallmark finding of hypomagnesaemia, which differentiates it from classic and neonatal variants [5]. (who.int)
  • Failure to thrive in an infant has multiple etiologies and at times is the only manifestation of underlying serious diseases such as Bartter syndrome, in which the majority of patients present with failure to thrive, vomiting and constipation during the first 2 years of life [6]. (who.int)
  • With early diagnosis and proper treatment Bartter syndrome has a good prognosis, but failure to identify it can lead to renal failure [8]. (who.int)
  • In contrast with BARTTER SYNDROME , Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS . (nih.gov)
  • 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). (nih.gov)
  • For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. (nih.gov)
  • Bartter syndrome ( https://omim.org/entry/607364 ) refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. (ghcgenetics.sk)
  • Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g. (ghcgenetics.sk)
  • 600359 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A ( 602522 ), is caused by mutation in the BSND gene ( 606412 ). (ghcgenetics.sk)
  • Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B ( 613090 ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes. (ghcgenetics.sk)
  • Also see autosomal dominant hypocalcemia-1 with Bartter syndrome ( 601198 ), which is sometimes referred to as Bartter syndrome type 5 ( Fremont and Chan, 2012 ), caused by mutation in the CASR gene ( 601199 ). (ghcgenetics.sk)
  • 263800 ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 ( 600968 ). (ghcgenetics.sk)
  • What is Bartter Syndrome? (medanta.org)
  • Bartter syndrome is a rare inherited congenital defect that affects the kidneys. (medanta.org)
  • Bartter syndrome is of two types - Neonatal Bartter syndrome and classic Bartter syndrome. (medanta.org)
  • If you have Bartter syndrome, you are likely to have hypokalemia or low potassium level, alkalosis or increased pH value of blood and low blood pressure. (medanta.org)
  • Although another disorder called Gitelman syndrome is closely associated, it is milder than Bartter syndrome. (medanta.org)
  • In most cases, neonatal Bartter syndrome happens during the twenty-fourth to thirtieth week of gestation with polyhydramnios or excessive amniotic fluid. (medanta.org)
  • Bartter syndrome is caused due to genetic mutations during the birth of the child. (medanta.org)
  • The causes of Bartter syndrome are unknown yet. (medanta.org)
  • The risk factors of Bartter syndrome remain unknown, because the disease has its origins in genetic mutations of unknown causes. (medanta.org)
  • There are no known prevention methodologies for Bartter syndrome, because the disease results from mutations of the genes. (medanta.org)
  • Most kidney-related issues cause blood pressure, but Bartter syndrome causes low blood pressure. (medanta.org)
  • At Medanta, Bartter syndrome is diagnosed mainly by using blood tests and urine tests. (medanta.org)
  • Gitelman syndrome is caused by disease-causing variants on both alleles of the SLC12A3 gene. (wikipedia.org)
  • Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. (medlineplus.gov)
  • Enriquez R, Adam V, Sirvent AE, Garcia-Garcia AB, Millan I, Amoros F. Gitelman syndrome due to p.A204T mutation in CLCNKB gene. (medlineplus.gov)
  • Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. (medlineplus.gov)
  • Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). (scienceopen.com)
  • Gitelman syndrome has been shown to be associated with a mutation in the gene solute carrier family 12, member 3 ( SLC12A3 ). (medscape.com)
  • At least two mutations in the AVPR2 gene have been found to cause another kidney disorder known as nephrogenic syndrome of inappropriate antidiuresis (NSIAD). (nih.gov)
  • Simon DB et al: Mutations in the gene CLCNKB cause Bartter's syndrome type III. (medprep.info)
  • Gitelman syndrome is a condition caused by a mutation of the thiazide sensitive Na-Cl cotransporter gene on the distal convoluted tubule. (e-jyms.org)
  • identified a subset of individuals with Gitelman syndrome with a severe phenotypic expression. (wikipedia.org)
  • Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. (medlineplus.gov)
  • Clinically, a remarkable absence of arterial hypertension and occasional symptoms of hypokalemia, together with a biochemical constellation of persistent, refractory hypokalemia, metabolic alkalosis, secondary hyperaldosteronism, mild hypomagnesemia and hypocalciuria, are suggestive of Gitelman's syndrome. (medscape.com)
  • I will especially focus on the recent elucidation of the mechanisms involved in the pathogenesis of the hypomagnesemia and hypocalciuria that accompanies Gitelman syndrome. (nih.gov)
  • Gitelman's syndrome represents the predominant subset of Bartter's patients having hypomagnesemia and hypocalciuria. (scienceopen.com)
  • The last two features distinguish patients with this syndrome from those with Gitelman's syndrome, who, in addition to hypokalemic alkalosis and salt loss, exhibit hypocalciuria and hypomagnesaemia. (medprep.info)
  • Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. (nih.gov)
  • Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. (scienceopen.com)
  • We now demonstrate complete linkage of Gitelman's syndrome to the locus encoding the renal thiazide-sensitive Na-Cl cotransporter, and identify a wide variety of non-conservative mutations, consistent with loss of function alleles, in affected subjects. (scienceopen.com)
  • Biochemical investigations showed refractory hypokalemia and secondary hyperaldosteronism, suggestive of Gitelman's syndrome. (medscape.com)
  • Bartter FC et al: Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. (medprep.info)
  • Numerous causes of renal magnesium wasting have been identified including (but not limited to) congenital defects (including Barter and Gitelman syndrome), various endocrine disorders (including hyperaldosteronism and hyperparathyroidism), exposure to certain drugs (ie, diuretics, cis -platinum, aminoglycoside antibiotics, calcineurin inhibitors), and other miscellaneous causes (including chronic alcohol abuse). (testcatalog.org)
  • Yale Gitelman's and Bartter's Syndrome Collaborative Study Group. (medlineplus.gov)
  • Metabolic alkalosis with hypokalemia like Gitelman syndrome and Bartter's syndrome can cause tetany. (wikipedia.org)
  • Bartter's syndrome is a hereditary disease (see also Appendix 2. (medprep.info)
  • Bartter's syndrome: a neonatal presentation. (who.int)
  • Gitelman syndrome is a kidney function disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. (nih.gov)
  • Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. (wikipedia.org)
  • In the past decade our understanding of the etiology and pathophysiology of Gitelman syndrome, an autosomal recessive salt-losing tubular disorder with secondary hypokalemia, has increased considerably through the achievements of molecular genetics and cell physiology. (nih.gov)
  • Gitelman syndrome (GS) is considered as the most common renal tubular disorder, and we report the first Romanian patient with GS confirmed at molecular level and diagnosed according to genetic testing. (scienceopen.com)
  • Also, Kartagener syndrome is defined as genetic disorder along with autosomal recessive inheritance. (averroes-emj.com)
  • In a very small number of people, however, this regulation mechanism doesn't work correctly due to a genetic defect - for example, in the case of Gitelman syndrome, a rare, inherited kidney disorder. (bund.de)
  • Patients with Gitelman syndrome may have renal tubular acidosis and a history of pseudogout. (medscape.com)
  • This autosomal recessive inheritable renal syndrome is caused by defective sodium chloride (NaCl) transporters in the distal convoluted tubule. (medscape.com)
  • In Gitelman syndrome, the defect is in the distal tubule. (msdmanuals.com)
  • This case is unique in that distal RTA was the presenting clinical manifestation of Sjögren's syndrome. (bmj.com)
  • Trastorno renal hereditario caracterizado por una defectuosa reabsorción de ClNa en el TÚBULO RENAL DISTAL, que da lugar a HIPOPOTASEMIA. (bvsalud.org)
  • Gitelman syndrome in a 11 year old boy: incidental or delayed diagnosis? (nih.gov)
  • Before a diagnosis of Gitelman syndrome is made these conditions must be ruled out. (rareguru.com)
  • Genetic testing can confirm a diagnosis of Gitelman syndrome. (rareguru.com)
  • Serological investigations subsequently revealed positive anti-nuclear, anti-Sjögren's syndrome related antigen A (SS-A), and anti-Sjögren's syndrome related antigen B (SS-B) antibodies, supporting the diagnosis of Sjögren's syndrome. (bmj.com)
  • Pediatric Nephrology delivers care and management for broods with various kidney diseases , including Nephrotic syndrome , urinary tract infections, hematuria, proteinuria, hypertension, electrolyte disorders, complications of kidney stones and enuresis conditions. (nephroconferences.com)
  • Gitelman syndrome can mimic several other manifestations of calcium pyrophosphate deposition (CPPD) disease , including osteoarthritis, carpal tunnel syndrome, and tenosynovitis with calcifications along the tendon sheath itself. (medscape.com)
  • Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. (nih.gov)
  • Quality of life is decreased in Gitelman syndrome Phenotypic variations observed among patients probably result from differences in their genetic background and may depend on which particular amino acid in the NCCT protein has been mutated. (wikipedia.org)
  • 2004). See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1). (nih.gov)
  • 17. The WNK1 and WNK4 protein kinases that are mutated in Gordon's hypertension syndrome phosphorylate and activate SPAK and OSR1 protein kinases. (nih.gov)
  • Gitelman syndrome tends to manifest during late childhood to adulthood. (msdmanuals.com)
  • [ 16 , 17 ] One randomized trial found that the duration of mechanical ventilation in patients with COPD or obesity-hypoventilation syndrome with metabolic alkalosis was not significantly reduced in patients who received early administration of acetazolamide, compared with placebo. (medscape.com)
  • Nephrogenic syndrome of inappropriate antidiuresis. (nih.gov)
  • Gitelman syndrome can be caused by changes in the SLC12A3 or CLCNKB genes and is inherited in an autosomal recessive manner. (nih.gov)
  • The cause may be related to the thiazide-sensitive sodium chloride cotransporter, which is found in a variant form in most patients with the syndrome. (medscape.com)
  • The syndrome means that your kidneys are unable to reabsorb Sodium and you lose it in urine. (medanta.org)
  • Occasionally, pseudogout (acute CPP crystal arthritis) may present as a pseudoseptic syndrome with acute arthritis, fever, and leukocytosis with a left shift. (medscape.com)
  • Nephrologist Dr. Hillel Jonathan Gitelman died in January. (nih.gov)
  • In contrast to people with Gordon's syndrome, those affected by Gitelman syndrome generally have low or normal blood pressure. (wikipedia.org)
  • Individuals affected by Gitelman syndrome often complain of severe muscle cramps or weakness, numbness, thirst, waking up at night to urinate, salt cravings, abnormal sensations, chondrocalcinosis, or weakness expressed as extreme fatigue or irritability. (wikipedia.org)
  • This syndrome is reported because of its rarity-to our information this is the first reported in Iraq-and to alert paediatricians in the region to its neonatal variant. (who.int)
  • In Gitelman syndrome, hypomagnesemia and a low urinary calcium excretion are common. (msdmanuals.com)