A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
A characteristic symptom complex.
Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis.
A Fanconi anemia complementation group protein that regulates the activities of CYTOCHROME P450 REDUCTASE and GLUTATHIONE S-TRANSFERASE. It is found predominately in the CYTOPLASM, but moves to the CELL NUCLEUS in response to FANCE PROTEIN.
A Fanconi anemia complementation group protein that undergoes mono-ubiquitination by FANCL PROTEIN in response to DNA DAMAGE. Also, in response to IONIZING RADIATION it can undergo PHOSPHORYLATION by ataxia telangiectasia mutated protein. Modified FANCD2 interacts with BRCA2 PROTEIN in a stable complex with CHROMATIN, and it is involved in DNA REPAIR by homologous RECOMBINATION.
A condition of an abnormally low level of PHOSPHATES in the blood.
A Fanconi anemia complementation group protein that is the most commonly mutated protein in FANCONI ANEMIA. It undergoes PHOSPHORYLATION by PROTEIN KINASE B and forms a complex with FANCC PROTEIN in the CELL NUCLEUS.
Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction.
The presence of proteins in the urine, an indicator of KIDNEY DISEASES.
The appearance of an abnormally large amount of GLUCOSE in the urine, such as more than 500 mg/day in adults. It can be due to HYPERGLYCEMIA or genetic defects in renal reabsorption (RENAL GLYCOSURIA).
A Fanconi anemia complementation group protein that undergoes PHOSPHORYLATION by CDC2 PROTEIN KINASE during MITOSIS. It forms a complex with other FANCONI ANEMIA PROTEINS and helps protect CELLS from DNA DAMAGE by genotoxic agents.
An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.
A covalently linked dimeric nonessential amino acid formed by the oxidation of CYSTEINE. Two molecules of cysteine are joined together by a disulfide bridge to form cystine.
Walking aids generally having two handgrips and four legs.

Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. (1/119)

A boy aged 9 3/4 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities is described. The association may be due to a new genetic disorder, since 2 similar cases have been reported.  (+info)

Kappa light chain-associated Fanconi's syndrome: molecular analysis of monoclonal immunoglobulin light chains from patients with and without intracellular crystals. (2/119)

Plasma cell dyscrasias may be responsible for Fanconi's syndrome, due to the toxicity of a free monoclonal kappa light chain toward kidney proximal tubules. Eight cases of Fanconi's syndrome were analyzed. We compared the structures of VkappaI variability subgroup V domains from five cases of Fanconi's syndrome and one myeloma without renal involvement. Among Fanconi cases, four putative structures were obtained after molecular modeling by homology, and the other had previously been refined by X-ray crystallography. The complete sequences of one VkappaI, one VkappaIII and N-terminal sequences of two VkappaI light chains, from patients with different forms of Fanconi's syndrome, were compared with four previously studied sequences. All three kappa chains responsible for a 'classical' form with intralysosomal crystals and a low mass myeloma, were encoded by the LCO2/O12 germline gene and had an unusual non-polar residue exposed to the solvent in the CDR-L1 loop. Of both VkappaI light chains from patients with Fanconi's syndrome without intracellular crystals, one derived from LCO2/O12 and the other from LCO8/O18 gene. Another feature that could be related to non-crystallization was the absence of accessible side chains in the CDR-L3 loop which is known to be implicated in dimer formation.  (+info)

Megalin knockout mice as an animal model of low molecular weight proteinuria. (3/119)

Megalin is an endocytic receptor expressed on the luminal surface of the renal proximal tubules. The receptor is believed to play an important role in the tubular uptake of macromolecules filtered through the glomerulus. To elucidate the role of megalin in vivo and to identify its endogenous ligands, we analyzed the proximal tubular function in mice genetically deficient for the receptor. We demonstrate that megalin-deficient mice exhibit a tubular resorption deficiency and excrete low molecular weight plasma proteins in the urine (low molecular weight proteinuria). Proteins excreted include small plasma proteins that carry lipophilic compounds including vitamin D-binding protein, retinol-binding protein, alpha(1)-microglobulin and odorant-binding protein. Megalin binds these proteins and mediates their cellular uptake. Urinary loss of carrier proteins in megalin-deficient mice results in concomitant loss of lipophilic vitamins bound to the carriers. Similar to megalin knockout mice, patients with low molecular weight proteinuria as in Fanconi syndrome are also shown to excrete vitamin/carrier complexes. Thus, these results identify a crucial role of the proximal tubule in retrieval of filtered vitamin/carrier complexes and the central role played by megalin in this process.  (+info)

Neonatal diabetes mellitus with hypergalactosemia. (4/119)

We report the case of a male, small-for-gestational-age newborn who presented with failure to thrive, severe fluctuation of blood glucose concentrations, and increased serum concentrations of galactose. The infant responded well to a lactose-free diet supplemented with fructose, inulin and corn starch. The metabolic disorder disappeared within 6 months. The transient course, and results of a molecular analysis of the glucose transporter 2 (Glut2) gene seem to rule out Fanconi-Bickel syndrome.  (+info)

Mutational analysis in murine models for myeloma-associated Fanconi's syndrome or cast myeloma nephropathy. (5/119)

We have designed an in vivo model in which murine hybridoma cell clones producing human Ig light chains (LC) are administered to mice. Depending on which monoclonal LC is expressed, this model mimics either cast myeloma nephropathy or the pathological condition defined as myeloma-associated Fanconi's syndrome (FS) with LC crystallization. Morphological alterations of the kidney cells are thus obtained in mice. All studied LC are closely related human monoclonal VkappaI proteins, which differ by a limited number of substitutions within the variable region. In the case of an FS monoclonal LC, we show that limited changes introduced through site-directed mutagenesis in the variable domain may suppress formation of intracellular crystals within tubular cells. We also show that multiple peculiarities of the variable region are simultaneously needed to allow LC crystallization; this property thus likely results from a unique LC tridimensional conformation imposed by concomitant somatic mutations of a specific germinally encoded framework.  (+info)

A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice. (6/119)

Hereditary tyrosinemia type 1 (HT1) (McKusick 276700), a severe autosomal recessive disorder of tyrosine metabolism, is caused by mutations in the fumarylacetoacetate hydrolase gene Fah (EC 3.7.1.2), which encodes the last enzyme in the tyrosine catabolic pathway. HT1 is characterized by severe progressive liver disease and renal tubular dysfunction. Homozygous disruption of the gene encoding Fah in mice causes neonatal lethality (e.g., lethal Albino deletion c14CoS mice), an event that limits use of this animal as a model for HT1. A new mouse model was developed with two genetic defects, Fah and 4-hydroxyphenylpyruvate dioxygenase (Hpd). The Fah-/- Hpd-/- mice grew normally without evidence of liver and renal disease, and the phenotype is similar to that in Fah+/+ Hpd-/- mice. The renal tubular cells of Fah-/- Hpd-/- mice, particularly proximal tubular cells, underwent rapid apoptosis when homogentisate, the intermediate metabolite between HPD and FAH, was administered to the Fah-/- Hpd-/- mice. Simultaneously, renal tubular function was impaired and Fanconi syndrome occurred. Apoptotic death of renal tubular cells, but not renal dysfunction, was prevented by pretreatment of the animals with YVAD, a specific inhibitor of caspases. In the homogentisate-treated Fah-/- Hpd-/- mice, massive amounts of succinylacetone were excreted into the urine, regardless of treatment with inhibitors. It is suggested that apoptotic death of renal tubular cells, as induced by administration of homogentisate to Fah-/- Hpd-/- mice, was caused by an intrinsic process, and that renal apoptosis and tubular dysfunctions in tubular cells occurred through different pathways. These observations shed light on the pathogenesis of renal tubular injury in subjects with FAH deficiency. These Fah-/- Hpd-/- mice can serve as a model in experiments related to renal tubular damage.  (+info)

An infant with severe combined immunodeficiency syndrome, an alpha-thalassemia trait and renal Fanconi syndrome. (7/119)

We describe an infant with severe combined immunodeficiency syndrome and an alpha-thalassemia trait who developed a renal Fanconi syndrome after his first stem cell transplantation. This syndrome consists of a generalized failure of proximal tubular reabsorption, which leads to a large number of metabolic disturbances. The etiology varies from inherited causes, including an idiopathic form, to acquired causes such as intoxications, immunological disorders and hemoglobinopathies. In this case report we discuss possible explanations of the Fanconi syndrome in our patient.  (+info)

Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. (8/119)

Autosomal dominant renal Fanconi syndrome is a genetic model for the study of proximal renal tubular transport pathology. We were able to map the locus for this disease to human chromosome 15q15.3 by genotyping a central Wisconsin pedigree with 10 affected individuals. After a whole-genome scan with highly polymorphic simple sequence repeat markers, a maximum LOD score of 3.01 was calculated for marker D15S659 on chromosome 15q15.3. Linkage and haplotype analysis for an additional 24 markers flanking D15S659 narrowed the interval to approximately 3 cM, with the two highest single-point LOD scores observed being 4.44 and 4.68 (for D15S182 and D15S537, respectively). Subsequently, a complete bacterial artificial chromosome contig was constructed, from the High Throughput Genomic Sequence Database, for the region bounded by D15S182 and D15S143. The identification of the gene and gene product altered in autosomal dominant renal Fanconi syndrome will allow the study of the physiology of proximal renal tubular transport.  (+info)

Fanconi syndrome is a medical condition that affects the proximal tubules of the kidneys. These tubules are responsible for reabsorbing various substances, such as glucose, amino acids, and electrolytes, back into the bloodstream after they have been filtered through the kidneys.

In Fanconi syndrome, there is a defect in the reabsorption process, causing these substances to be lost in the urine instead. This can lead to a variety of symptoms, including:

* Polyuria (excessive urination)
* Polydipsia (excessive thirst)
* Dehydration
* Metabolic acidosis (an imbalance of acid and base in the body)
* Hypokalemia (low potassium levels)
* Hypophosphatemia (low phosphate levels)
* Vitamin D deficiency
* Rickets (softening and weakening of bones in children) or osteomalacia (softening of bones in adults)

Fanconi syndrome can be caused by a variety of underlying conditions, including genetic disorders, kidney diseases, drug toxicity, and heavy metal poisoning. Treatment typically involves addressing the underlying cause, as well as managing symptoms such as electrolyte imbalances and acid-base disturbances.

Oculocerebrorenal syndrome, also known as Lowe syndrome, is a rare genetic disorder that primarily affects the eyes, brain, and kidneys. It's characterized by congenital cataracts, intellectual disability, and progressive kidney disease. The condition is caused by mutations in the OCRL gene, which provides instructions for making an enzyme called phosphatidylinositol 4,5-bisphosphate 5-phosphatase. This enzyme plays a crucial role in cell signaling and trafficking within cells.

The symptoms of oculocerebrorenal syndrome can vary widely among affected individuals, but they typically include:

* Eye abnormalities: Most people with the condition are born with congenital cataracts that need to be removed soon after birth. Other eye problems may include glaucoma, strabismus (crossed eyes), and optic nerve damage, which can lead to vision loss.
* Brain abnormalities: Intellectual disability is a common feature of the condition, ranging from mild to severe. Affected individuals may also have delayed development, behavioral problems, and difficulty with coordination and movement.
* Kidney abnormalities: Progressive kidney disease is a hallmark of oculocerebrorenal syndrome. The kidneys may become enlarged and scarred, leading to kidney failure in some cases. Other kidney-related symptoms can include proteinuria (protein in the urine), hematuria (blood in the urine), and high blood pressure.

There is no cure for oculocerebrorenal syndrome, but treatments can help manage the symptoms. For example, cataract surgery can improve vision, while medications and dietary changes can help manage kidney disease. Early intervention and supportive care can also help improve outcomes for affected individuals.

Cystinosis is a rare, inherited metabolic disorder that affects primarily the eyes, kidneys, and liver. It is characterized by an abnormal accumulation of the amino acid cystine within lysosomes (cellular organelles responsible for breaking down and recycling waste products) due to a defect in the gene CTNS that encodes for a protein called cystinosin. This leads to the formation of crystals, which can cause cell damage and multi-organ dysfunction.

There are three main types of cystinosis:

1. Nephropathic or infantile cystinosis: This is the most severe form, with symptoms appearing within the first year of life. It primarily affects the kidneys, leading to Fanconi syndrome (a condition characterized by excessive loss of nutrients in urine), growth failure, and kidney dysfunction. If left untreated, it can progress to end-stage renal disease (ESRD) around the age of 10.
2. Intermediate cystinosis: This form presents during childhood with milder kidney involvement but can still lead to ESRD in adolescence or early adulthood. Eye and central nervous system abnormalities may also be present.
3. Non-nephropathic or ocular cystinosis: This is the mildest form, primarily affecting the eyes. Symptoms include photophobia (sensitivity to light), corneal opacities, and decreased vision. Kidney function remains normal in this type.

Treatment for cystinosis typically involves a combination of medications to manage symptoms and slow disease progression. Cysteamine therapy, which helps remove excess cystine from cells, is the primary treatment for all types of cystinosis. Regular monitoring and management of complications are essential to maintain quality of life and prolong survival.

Fanconi anemia is a rare, inherited disorder that affects the body's ability to produce healthy blood cells. It is characterized by bone marrow failure, congenital abnormalities, and an increased risk of developing certain types of cancer. The condition is caused by mutations in genes responsible for repairing damaged DNA, leading to chromosomal instability and cell death.

The classic form of Fanconi anemia (type A) is typically diagnosed in childhood and is associated with various physical abnormalities such as short stature, skin pigmentation changes, thumb and radial ray anomalies, kidney and genitourinary malformations, and developmental delays. Other types of Fanconi anemia (B-G) may have different clinical presentations but share the common feature of bone marrow failure and cancer predisposition.

Bone marrow failure in Fanconi anemia results in decreased production of all three types of blood cells: red blood cells, white blood cells, and platelets. This can lead to anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). These conditions increase the risk of infections, fatigue, and bleeding.

Individuals with Fanconi anemia have a significantly higher risk of developing various types of cancer, particularly acute myeloid leukemia (AML) and solid tumors such as squamous cell carcinomas of the head, neck, esophagus, and anogenital region.

Treatment for Fanconi anemia typically involves managing symptoms related to bone marrow failure, such as transfusions, growth factors, and antibiotics. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for bone marrow failure but carries risks of its own, including graft-versus-host disease and transplant-related mortality. Regular cancer surveillance is essential due to the increased risk of malignancies in these patients.

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.

Renal tubular acidosis (RTA) is a medical condition that occurs when the kidneys are unable to properly excrete acid into the urine, leading to an accumulation of acid in the bloodstream. This results in a state of metabolic acidosis.

There are several types of RTA, but renal tubular acidosis type 1 (also known as distal RTA) is characterized by a defect in the ability of the distal tubules to acidify the urine, leading to an inability to lower the pH of the urine below 5.5, even in the face of metabolic acidosis. This results in a persistently alkaline urine, which can lead to calcium phosphate stones and bone demineralization.

Type 1 RTA is often caused by inherited genetic defects, but it can also be acquired due to various kidney diseases, drugs, or autoimmune disorders. Symptoms of type 1 RTA may include fatigue, weakness, muscle cramps, decreased appetite, and vomiting. Treatment typically involves alkali therapy to correct the acidosis and prevent complications.

Tyrosinemia is a rare genetic disorder that affects the way the body metabolizes the amino acid tyrosine, which is found in many protein-containing foods. There are three types of tyrosinemia, but type I, also known as hepatorenal tyrosinemia or Hawkins' syndrome, is the most severe and common form.

Tyrosinemia type I is caused by a deficiency of the enzyme fumarylacetoacetase, which is necessary for the breakdown of tyrosine in the body. As a result, toxic intermediates accumulate and can cause damage to the liver, kidneys, and nervous system. Symptoms of tyrosinemia type I may include failure to thrive, vomiting, diarrhea, abdominal pain, jaundice, and mental developmental delays.

If left untreated, tyrosinemia type I can lead to serious complications such as liver cirrhosis, liver cancer, kidney damage, and neurological problems. Treatment typically involves a low-tyrosine diet, medication to reduce tyrosine production, and sometimes liver transplantation. Early diagnosis and treatment are essential for improving outcomes in individuals with tyrosinemia type I.

Fanconi anemia (FA) is a genetic disorder characterized by various developmental abnormalities, bone marrow failure, and increased risk of malignancies. It is caused by mutations in genes involved in the FA complementation group, which are responsible for repairing damaged DNA.

The FA complementation group proteins include FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, and FAAP100. These proteins work together to form the FA core complex, which is responsible for monoubiquitinating FANCD2 and FANCI in response to DNA damage. This modification allows for the recruitment of downstream effectors that facilitate DNA repair and maintain genomic stability.

Defects in any of these FA complementation group proteins can lead to Fanconi anemia, with varying clinical manifestations depending on the specific gene involved and the severity of the mutation.

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.

Osteomalacia is a medical condition characterized by the softening of bones due to defective bone mineralization, resulting from inadequate vitamin D, phosphate, or calcium. It mainly affects adults and is different from rickets, which occurs in children. The primary symptom is bone pain, but muscle weakness can also occur. Prolonged osteomalacia may lead to skeletal deformities and an increased risk of fractures. Treatment typically involves supplementation with vitamin D, calcium, and sometimes phosphate.

Fanconi anemia complementation group C protein, also known as FANCC protein, is a component of the Fanconi anemia (FA) DNA repair pathway. This protein plays a critical role in protecting cells from oxidative stress and maintaining genomic stability. Mutations in the FANCC gene can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and increased risk of cancer.

FANCC protein functions as part of a complex that includes other FA proteins, which work together to repair DNA damage caused by interstrand crosslinks (ICLs) - a type of DNA lesion that can lead to genomic instability and cancer. When the FA pathway is activated in response to ICLs, FANCC protein undergoes monoubiquitination, which allows it to interact with other proteins involved in DNA repair and chromatin remodeling.

Defects in the FANCC protein can result in impaired DNA repair and increased sensitivity to DNA-damaging agents, leading to the characteristic features of Fanconi anemia. Additionally, mutations in the FANCC gene have been associated with an increased risk of developing acute myeloid leukemia (AML) and other cancers.

Fanconi Anemia Complementation Group D2 Protein, also known as FANCD2 protein, is a key player in the Fanconi anemia (FA) pathway, which is a DNA repair pathway that helps to maintain genomic stability. The FA pathway is responsible for the repair of DNA interstrand cross-links (ICLs), which are harmful lesions that can lead to genomic instability and cancer.

FANCD2 protein is part of the E3 ubiquitin ligase complex that monoubiquitinates FANCI protein, forming a heterodimeric complex known as ID2. The monoubiquitination of FANCD2/FANCI is a critical step in the FA pathway and is required for the recruitment of downstream repair factors to the site of DNA damage.

Mutations in the gene that encodes FANCD2 protein can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. The disease is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Hypophosphatemia is a medical condition characterized by abnormally low levels of phosphate (phosphorus) in the blood, specifically below 2.5 mg/dL. Phosphate is an essential electrolyte that plays a crucial role in various bodily functions such as energy production, bone formation, and maintaining acid-base balance.

Hypophosphatemia can result from several factors, including malnutrition, vitamin D deficiency, alcoholism, hormonal imbalances, and certain medications. Symptoms of hypophosphatemia may include muscle weakness, fatigue, bone pain, confusion, and respiratory failure in severe cases. Treatment typically involves correcting the underlying cause and administering phosphate supplements to restore normal levels.

Fanconi anemia complementation group A protein (FANCA) is a protein encoded by the FANCA gene in humans. It is a part of the Fanconi anemia (FA) pathway, which is a group of proteins that play a critical role in maintaining genomic stability and preventing cancer.

The FA pathway is involved in the repair of DNA interstrand crosslinks (ICLs), which are harmful lesions that can block replication and transcription of DNA. FANCA protein, along with other FA proteins, forms a complex called the "FA core complex" that monoubiquitinates another FA protein called FANCD2. This monoubiquitination event is essential for the recruitment of downstream repair factors to damaged DNA and restoration of normal DNA structure.

Mutations in the FANCA gene can lead to Fanconi anemia, a rare genetic disorder characterized by congenital abnormalities, bone marrow failure, and increased risk of cancer. The disease is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Interstitial nephritis is a condition characterized by inflammation in the interstitium (the tissue between the kidney tubules) of one or both kidneys. This inflammation can be caused by various factors, including infections, autoimmune disorders, medications, and exposure to certain toxins.

The inflammation may lead to symptoms such as hematuria (blood in the urine), proteinuria (protein in the urine), decreased urine output, and kidney dysfunction. In some cases, interstitial nephritis can progress to chronic kidney disease or even end-stage renal failure if left untreated.

The diagnosis of interstitial nephritis typically involves a combination of medical history, physical examination, laboratory tests (such as urinalysis and blood tests), and imaging studies (such as ultrasound or CT scan). A kidney biopsy may also be performed to confirm the diagnosis and assess the severity of the inflammation.

Treatment for interstitial nephritis depends on the underlying cause, but may include corticosteroids, immunosuppressive medications, or discontinuation of any offending medications. In some cases, supportive care such as dialysis may be necessary to manage kidney dysfunction until the inflammation resolves.

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.

Glycosuria is a medical term that refers to the presence of glucose in the urine. Under normal circumstances, the kidneys are able to reabsorb all of the filtered glucose back into the bloodstream. However, when the blood glucose levels become excessively high, such as in uncontrolled diabetes mellitus, the kidneys may not be able to reabsorb all of the glucose, and some of it will spill over into the urine.

Glycosuria can also occur in other conditions that affect glucose metabolism or renal function, such as impaired kidney function, certain medications, pregnancy, and rare genetic disorders. It is important to note that glycosuria alone does not necessarily indicate diabetes, but it may be a sign of an underlying medical condition that requires further evaluation by a healthcare professional.

Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and increased risk of malignancies. It is caused by mutations in genes responsible for the repair of DNA damage. There are several complementation groups (A, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P) in Fanconi anemia, based on the genetic defect and the protein it affects.

FA Complementation Group G Protein is also known as FANCG protein or FACA protein. It is a component of the FA/BRCA DNA repair pathway, which plays a crucial role in maintaining genomic stability by repairing DNA interstrand crosslinks (ICLs) and other forms of DNA damage. The FANCG protein functions as a bridge between the upstream FA complex and the downstream FANCD2/FANCI complex in this pathway.

Mutations in the FANCG gene can lead to Fanconi anemia Complementation Group G, which is characterized by bone marrow failure, congenital abnormalities, and increased risk of malignancies, similar to other FA complementation groups. The diagnosis of FA Complementation Group G typically involves genetic testing to identify mutations in the FANCG gene. Treatment may include hematopoietic stem cell transplantation, androgen therapy, and surveillance for malignancies.

Hemorrhagic Fever with Renal Syndrome (HFRS) is a group of clinically similar diseases caused by several distinct but related orthohantaviruses. The viruses are primarily transmitted to humans through inhalation of aerosols contaminated with excreta of infected rodents.

The clinical presentation of HFRS includes four phases: febrile, hypotensive, oliguric (decreased urine output), and polyuric (increased urine output). The febrile phase is characterized by fever, headache, myalgia, and abdominal pain. In the hypotensive phase, patients may experience a sudden drop in blood pressure, shock, and acute kidney injury leading to oliguria. The oliguric phase can last for days to weeks, followed by a polyuric phase where urine output increases significantly.

Additional symptoms of HFRS may include nausea, vomiting, conjunctival injection (redness), photophobia (sensitivity to light), and petechial rash (small red or purple spots on the skin caused by bleeding under the skin). In severe cases, HFRS can lead to acute renal failure, hypovolemic shock, and even death.

The severity of HFRS varies depending on the specific virus causing the infection. The most severe form of HFRS is caused by the Hantaaan virus, which has a mortality rate of up to 15%. Other viruses that can cause HFRS include Dobrava-Belgrade, Seoul, and Puumala viruses, with lower mortality rates ranging from less than 1% to about 5%.

Prevention measures for HFRS include reducing exposure to rodents and their excreta through proper food storage, waste disposal, and rodent control. Vaccines are available in some countries to prevent HFRS caused by specific viruses.

Cystine is a naturally occurring amino acid in the body, which is formed from the oxidation of two cysteine molecules. It is a non-essential amino acid, meaning that it can be produced by the body and does not need to be obtained through diet. Cystine plays important roles in various biological processes, including protein structure and antioxidant defense. However, when cystine accumulates in large amounts, it can form crystals or stones, leading to conditions such as cystinuria, a genetic disorder characterized by the formation of cystine kidney stones.

"Walker" is not a medical term per se, but it is often used in the medical field to refer to a mobility aid that helps individuals who have difficulty walking independently. Walkers are typically made of lightweight metal and have four legs that provide stability and support. Some walkers come with wheels or glides on the front legs to make it easier for users to move around. They may also include brakes, seats, and baskets for added functionality.

Walkers can be beneficial for people who have mobility limitations due to various medical conditions such as arthritis, stroke, fractures, neurological disorders, or aging-related issues. Using a walker can help reduce the risk of falls, improve balance, increase independence, and enhance overall quality of life.

It is essential to consult with a healthcare professional before using a walker to ensure proper fit, adjustment, and usage techniques for maximum safety and effectiveness.

... or Fanconi's syndrome (English: /fɑːnˈkoʊni/, /fæn-/) is a syndrome of inadequate reabsorption in the proximal ... Familial renal disease in animals for Fanconi syndrome in Basenjis "Fanconi syndrome" at Dorland's Medical Dictionary Fanconi ... "Fanconi's syndrome and distal (type 1) renal tubular acidosis in a patient with primary Sjögren's syndrome with monoclonal ... Fanconi Syndrome at eMedicine Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A (March 2010 ...
... is a form of glycogen storage disease named for Guido Fanconi and Horst Bickel, who first described it ... Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (October 1998). "Fanconi-Bickel syndrome--the original patient and ... Santer R, Steinmann B, Schaub J (March 2002). "Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport ... in patients with Fanconi-Bickel syndrome". Hum. Genet. 110 (1): 21-9. doi:10.1007/s00439-001-0638-6. PMID 11810292. ...
Fanconi anemia Prader-Willi syndrome, discovered by a team of physicians including Fanconi. Fanconi syndrome Journal of ... His contributions to renal physiology led to renal Fanconi syndrome being named for him. In 1945 he founded a new pediatric ... Fanconi. In 1927 he described hereditary panmyelopathy with short stature and hyperpigmentation, better known as Fanconi anemia ... 674 Who Named It? - Guido Fanconi Biography of Guido Fanconi by Stephan Lobitz (Berlin, Germany) and Eunike Velleuer ( ...
Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium ... "Orphanet: Oculocerebrorenal syndrome of Lowe". www.orpha.net. Retrieved 21 December 2016. "Fanconi syndrome: MedlinePlus ... This problem is known as Fanconi-type renal tubular dysfunction.[medical citation needed] This syndrome is caused by mutations ... "Lowe syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 December 2016. Loi M (2006). "Lowe Syndrome". ...
It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi. FA is characterized by bone marrow ... Research Fund GeneReviews/NCBI/NIH/UW entry on Fanconi Anemia OMIM entries on Fanconi Anemia Fanconi anemia at Curlie Fanconi's ... Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". Mol. ... In addition, Fanconi patients normally are born with a variety of birth defects. A significant number of Fanconi patients have ...
Boyd, Julian D.; Stearns, Genevieve (1941-05-01). "Late Rickets Resembling the Fanconi Syndrome". Archives of Pediatrics & ...
If some of these organic anions inhibit mitochondrial DNA synthesis, it may cause iatrogenic Fanconi syndrome. The nucleoside ... Tenofovir and cidofovir are also nucleoside phosphonates that inhibit MRP2 and have been associated with Fanconi syndrome. ... Vittecoq D, Dumitrescu L, Beaufils H, Deray G (August 1997). "Fanconi syndrome associated with cidofovir therapy". Antimicrob. ... Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal ...
... is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function ... Howard G. WORTHEN; Robert A. GOOD (1958). "The de Toni-Fanconi Syndrome with Cystinosis". Am J Dis Child. 95 (6): 653-688. doi: ... This results in renal Fanconi syndrome, and similar loss in other tissues can account for the short stature, retinopathy, and ... sometimes called renal Fanconi syndrome). The kidney problems lead to the loss of important minerals, salts, fluids, and other ...
"Fanconi's anaemia and related bone marrow failure syndromes". Br. Med. Bull. 77-78: 37-53. doi:10.1093/bmb/ldl007. PMID ... The Fanconi Anaemia/Breast Cancer Consortium. (1996). "Positional cloning of the Fanconi anaemia group A gene". Nat. Genet. 14 ... Mutations in this gene are the most common cause of Fanconi's anaemia. Fanconi anaemia is an inherited autosomal recessive ... "The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia ...
2000). "Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 ... The principal feature of Fanconi syndrome is bone demineralization (osteomalacia or rickets) due to phosphate and vitamin D ... Rochman, J; Lichtig, C; Osterweill, D; Tatarsky, I; Eidelman, S (October 1980). "Adult Fanconi's syndrome with renal tubular ... but is usually associated with a more generalised dysfunction of the proximal tubular cells called Fanconi syndrome where there ...
It has also associations with the appearance of Fanconi syndrome phenotypes which occurs due to a missense mutation of the gene ... Kashoor I, Batlle D (September 2019). "Proximal renal tubular acidosis with and without Fanconi syndrome". Kidney Research and ... The MODY syndromes". Endocrinology and Metabolism Clinics of North America. 28 (4): 765-85. doi:10.1016/S0889-8529(05)70101-8. ...
Paul SS, Saigal S "Fanoconi's S. Fanconi's Syndrome. The effect of predniosolon and methyl testosterone and a review of the ... Dubin Johnson Syndrome." Pediatr Clin Ind 2;278:1968. 13. Paul SS, Shagurina o, Modi S, Kalra S, Singh G "Malignant Neoplasms ... doi: 10.1136/adc.38.202.632 3. Paul SS "A case of Guglielmo Syndrome with foetal haemoglobin". J Ind Pediatr Soo 2; 363:1963 4 ... Paul SS, Mathew P "Acrocephalopolysndactyly Type II, Carpenter's Syndrome in two siblings- A Case report." Ind Pediatr 15;191: ...
Other symptoms may include kidney dysfunction (e.g. Fanconi syndrome) or neuropsychiatric symptoms (emotional lability, memory ... Hendry WF, A'Hern FPA, Cole PJ (1993). "Was Young's syndrome caused by mercury exposure in childhood?". BMJ. 307 (6919): 1579- ... There is some evidence that the same mercury poisoning may predispose to Young's syndrome (men with bronchiectasis and low ...
OB1 binds to Topoisomerase III alpha, while OB2 binds to RMI2 within the Bloom Syndrome complex, and FANCM of the Fanconi ... Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". ... Yin J, Sobeck A, Xu C, Meetei AR, Hoatlin M, Li L, Wang W (April 2005). "BLAP75, an essential component of Bloom's syndrome ... Mutations in RMI1 are associated with Bloom-Syndrome like disorder. Two patients, both with microcephalic dwarfism came from ...
Fanconi syndrome: decrease amino acids, phosphate, glucose, bicarbonate and potassium salts. The effects of OFC on bone are ... and hyperparathyroidism-jaw tumor syndrome can, if left unchecked, result in OFC. MEN Type 1 is an autosomal dominant disorder ...
Tischkowitz researches Fanconi Anemia genes, hereditary cancer syndromes, and genomic technologies. Tischkowitz completed a ... In 1999, he began doctoral studies researching chromosome breakage syndrome, fanconi anemia, gene mutations, and acute myeloid ... His 2003 dissertation was titled The role of mutations in Fanconi Anaemia genes in the aetiology of acute myeloid leukaemia and ... The role of mutations in fanconi anaemia genes in the aetiology of acute myeloid leukaemia and solid tissue malignancies. OCLC ...
Deans AJ, West SC (24 December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". ... Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. The Bloom ... "Bloom syndrome". Genetics Home Reference. NIH. Retrieved 19 March 2013. De Muyt A, Jessop L, Kolar E, Sourirajan A, Chen J, ... Bloom syndrome protein has been shown to interact with: ATM, CHAF1A, CHEK1, FANCM, FEN1, H2AFX, MLH1 P53, RAD51L3, RAD51, RPA1 ...
Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". ... May 2003). "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Molecular and Cellular Biology. 23 (10 ... Fanconi anemia, complementation group M, also known as FANCM is a human gene. It is an emerging target in cancer therapy, in ... It is believed that FANCM in conjunction with other Fanconi anemia- proteins repair DNA at stalled replication forks, and ...
2003). "A Multiprotein Nuclear Complex Connects Fanconi Anemia and Bloom Syndrome". Mol. Cell. Biol. 23 (10): 3417-26. doi: ... "Entrez Gene: FANCL Fanconi anemia, complementation group L". D'Andrea AD (2010). "Susceptibility pathways in Fanconi's anemia ... Sobeck A, Stone S, Landais I, de Graaf B, Hoatlin ME (2009). "The Fanconi anemia protein FANCM is controlled by FANCD2 and the ... Miles JA, Frost MG, Carroll E, Rowe ML, Howard MJ, Sidhu A, Chaugule VK, Alpi AF, Walden H (2015). "The Fanconi Anemia DNA ...
November 2001). "Glomerular protein sieving and implications for renal failure in Fanconi syndrome". Kidney International. 60 ( ... Evidence for a new syndrome: 'Shrunken pore syndrome'". Scandinavian Journal of Clinical and Laboratory Investigation. 75 (4): ... "Glomerular protein sieving and implications for renal failure in Fanconi syndrome". Proteins. 61 (3): 570-578-92. doi:10.1002/ ... Grubb A (June 2020). "Shrunken pore syndrome - a common kidney disorder with high mortality. Diagnosis, prevalence, ...
"Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome". Pediatric Research. 48 (5): 586-9. doi:10.1203/ ... "Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome ... Wang D, Kranz-Eble P, De Vivo DC (September 2000). "Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome". Human ... "Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal ...
... outdated tetracyclines can cause Fanconi syndrome-most expired drugs are probably effective. The American Medical Association ...
Fanconi syndrome, chronic kidney failure 13%), behavior ("unspecified" and aggression 9%), and cancer (9%). Fanconi syndrome, ... Fanconi syndrome usually presents between 4 and 8 years of age, but sometimes as early as 3 years or as late as 10 years. ... Fanconi syndrome is treatable and organ damage is reduced if treatment begins early. Basenji owners are advised to test their ... Noonan, C. H. B.; Kay, J. M. (1990). "Prevalence and Geographic-distribution of Fanconi syndrome in Basenjis in the United ...
Other symptoms may include kidney dysfunction (e.g. Fanconi syndrome) or neuropsychiatric symptoms such as emotional lability, ... Young's syndrome is believed to be a long-term consequence of early childhood mercury poisoning. Mercuric chloride may cause ... The term Hunter-Russell syndrome derives from a study of mercury poisoning among workers in a seed-packaging factory in Norwich ... Acrodynia is difficult to diagnose; "it is most often postulated that the etiology of this syndrome is an idiosyncratic ...
Kidney diseases Fanconi syndrome is a type of renal tubule disease found in Basenjis. Findings include the inability to ... Dermal fragility syndrome, also known as Ehlers-Danlos-like syndrome, is a rare condition in dogs characterized by increased ... White dog shaker syndrome causes full body tremors in small, white dog breeds. It is most common in West Highland White ... Legg-Calvé-Perthes syndrome, also known as Perthes disease or avascular necrosis of the femoral head, is characterized by a ...
... such as Fanconi syndrome. v t e (Urine, All stub articles, Medical sign stubs). ... Tubular proteinuria is a laboratory sign, not a disease; as a sign it appears in various syndromes and diseases, ...
... cidofovir and tenofovir has been associated with Fanconi syndrome. Clinical features of tenofovir-induced Fanconi syndrome ... This, in turn, may impair the function of these cells and may be the cause of antiviral induced Fanconi syndrome. The use of ... Nelson M, Azwa A, Sokwala A, Harania RS, Stebbing J (2008). "Fanconi syndrome and lactic acidosis associated with stavudine and ... Ahmad M (2006). "Abacavir-induced reversible Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired ...
Predisposition to AML includes but not limited to:Down syndrome, Klinefelter's syndrome, and Fanconi's anemia. Acquired ... Progression from myelodysplastic syndrome has been reported. Some patients may experience: Fatigue Easy Bruising Abnormal ... 2007). "Rare t(1;11)(q23;p15) in therapy-related myelodysplastic syndrome evolving into acute myelomonocytic leukemia: a case ...
Other adverse events include progressive multifocal leukoencephalopathy (PML) and Fanconi syndrome, which are considered rare. ...
The kidney dysfunction presents as Fanconi syndrome: Renal tubular acidosis, hypophosphatemia and aminoaciduria. Cardiomyopathy ...
Fanconi syndrome or Fanconis syndrome (English: /fɑːnˈkoʊni/, /fæn-/) is a syndrome of inadequate reabsorption in the proximal ... Familial renal disease in animals for Fanconi syndrome in Basenjis "Fanconi syndrome" at Dorlands Medical Dictionary Fanconi ... "Fanconis syndrome and distal (type 1) renal tubular acidosis in a patient with primary Sjögrens syndrome with monoclonal ... Fanconi Syndrome at eMedicine Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A (March 2010 ...
Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the ... Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the ... Sometimes the cause of Fanconi syndrome is unknown.. Common causes of Fanconi syndrome in children are genetic defects that ... Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the ...
The renal syndrome that is associated with the Swiss pediatrician Guido Fanconi was actually described in parts and under ... The most striking clinical feature of Fanconi syndrome is failure to thrive. Children with Fanconi syndrome usually have a ... encoded search term (Fanconi Syndrome) and Fanconi Syndrome What to Read Next on Medscape ... A Fanconi syndrome ensues only in those forms of the syndrome in which the deposition of glycogen in the renal tubules ...
... human genetic syndrome characterized by progressive bone marrow failure, developmental abnormalities, predisposition to ... Fanconi anaemia syndrome and apoptosis: state of the art Apoptosis. 1998 Sep;3(4):229-36. doi: 10.1023/a:1009644722210. ... Fanconi anemia (FA) is a rare recessive, human genetic syndrome characterized by progressive bone marrow failure, developmental ... Fanconi anemia (FA) is a rare recessive, ...
Fanconi syndrome), tumor-induced osteomalacia, hypophosphatasia, McCune-Albright syndrome, and osteogenesis imperfecta with ... mineralization defect (syndrome resembling osteogenesis imperfecta [SROI]). These cond... ... Fanconi syndrome. Fanconi syndrome is a disorder of proximal renal tubular transport. Phosphate, amino acid, glucose, ... Fanconi syndrome), tumor-induced osteomalacia, hypophosphatasia, McCune-Albright syndrome, and osteogenesis imperfecta with ...
The renal syndrome that is associated with the Swiss pediatrician Guido Fanconi was actually described in parts and under ... encoded search term (Fanconi Syndrome) and Fanconi Syndrome What to Read Next on Medscape ... Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome. BMC Pediatr. 2014 Aug ... Bickel H, Manz F. Hereditary tubular disorders of the Fanconi type and the idiopathic Fanconi syndrome. Prog Clin Biol Res. ...
Diagnosis and management of Fanconi syndrome in pediatric patients ... Arthrogryposis, renal dysfunction, cholestasis (ARC) syndrome Acute tubulointerstitial nephritis and uveitis (TINU) syndrome ... Fanconi syndrome. Diagnosis and management of Fanconi syndrome in pediatric patients. Related. Contributors. ...
This condition can only be passed on to a child if both parents have a copy of the faulty gene. This is called autosomal recessive inheritance. A person who has a copy of the faulty gene is known as a carrier.. If both parents are carriers, their child has a one in four (25%) chance of inheriting the disorder, and a one in two chance (50%) of being a carrier. This is the same for each child the parents have.. If the child only inherits one copy of the faulty gene, they will be a carrier but will not have the disorder. In some rare cases, carriers have had mild symptoms of the disorder for which they carry the faulty gene.. Once you are diagnosed, you can speak to a genetic counsellor. They can explain how you may have inherited this condition. They can also tell you about genetic testing for the rest of your family. They can provide advice and support if you go on to have children of your own.. ...
Fanconi Syndrome - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... Symptoms and Signs of Fanconi Syndrome In hereditary Fanconi syndrome, the chief clinical features-proximal tubular acidosis, ... Fanconi syndrome may also accompany Wilson disease Wilson Disease Wilson disease results in accumulation of copper in the liver ... Treatment of Fanconi Syndrome *. Sometimes sodium bicarbonate or potassium bicarbonate or sodium citrate or potassium citrate ...
People with Fanconi syndrome or FS develop lifelong health issues due to a defect in the proximal tubules that separate waste ... Fanconi anemia and Fanconi syndrome are entirely different conditions. Guido Fanconi discovered Fanconi anemia in 1927. Also ... Types of Fanconi Syndrome. The type of Fanconi syndrome with which a person is diagnosed depends on which nutrients their body ... In people with Fanconi syndrome or FS, a defect in the proximal tubules causes poor reabsorption of nutrients and results in ...
... but I have a weimaraner with Fanconi and Im wondering if anyone has had experience dealing with this disease and could lend ... I believe that some pet treats from China have caused Fanconi or a Fanconi-like syndrome, but I believe that this sort of ... Gonto does have a Fanconi protocol. Im definitely not experienced with Fanconi, but Im sure the people in the Fanconi group ... I have been through/going through fanconi syndrome with my pup. Let me ask you...was your dog diagnosed with fanconi? Please ...
Fanconi Syndrome. Since the FDA issued an initial warning 3 years ago, complaints are on the rise yet again. Today, November 18 ... Dogs affected may show signs ranging from a mild illness to Fanconi Syndrome. Over the last year, increasing numbers of ... Pet Blood tests may indicate canine kidney failure and urine tests may reveal sugar indicative of Fanconi syndrome. Although ... Abdominal Pain Abscess Abuse Achromatopsia Acne Acquired Immune Deficiency Syndrome Acral Lick Granuloma Addisons Disease AIDS ...
In 1927, Guido Fanconi first reported 3 brothers with macrocytosis, pancytopenia, and physical abnormalities. ... Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs), with approximately ... Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs). In 1927, Guido ... Tests in Fanconi anemia reveal the following:. * Complete blood count (CBC) - In Fanconi anemia, the CBC may reveal trilineage ...
FANCONI ANEMIA NEUROLOGICAL SYNDROME (FANS). Please contact andrea@fanconi.org for information about FANS clinical trials.. ... Fanconi Anemia Registry. Fanconi Anemia Research Fund , currently recruiting participants. Open to all individuals with Fanconi ... Contact: Andrea Ronan , 541-687-4658 , andrea@fanconi.org. Cancer in Inherited Bone Marrow Failure Syndromes. National Cancer ... Copyright © 2018-2023 Fanconi Anemia Research Fund. Content on this website is the property of the Fanconi Anemia Research Fund ...
Browse in Renal tubular disorders and Fanconis Syndrome, Risk assessment / prognosis / epidemiology , nephSAP ...
... induced Fanconi syndrome (FS) and its antitumor activity were investigated in rats and mice, respectively. In rats, a daily ... Badary, Osama A., "Thymoquinone attenuates ifosfamide-induced Fanconi syndrome in rats and enhances its antitumor activity in ... Thymoquinone attenuates ifosfamide-induced Fanconi syndrome in rats and enhances its antitumor activity in mice ... induced Fanconi syndrome (FS) and its antitumor activity were investigated in rats and mice, respectively. In rats, a daily ...
Ralph & Katie: A Gentle Comedy-Drama About A Couple With Downs Syndrome. *by Fanconi ... Home » Ralph & Katie: A Gentle Comedy-Drama About A Couple With Downs Syndrome. ...
Renal Fanconi Syndrome Market The Renal Fanconi Syndrome market outlook of the report helps to build a detailed comprehension ... Renal Fanconi Syndrome Drugs Uptake. This section focuses on the uptake rate of the potential Renal Fanconi Syndrome drugs ... Renal Fanconi Syndrome: An Overview. Fanconi syndrome is a condition that affects how your kidneys reabsorb certain essential ... Renal Fanconi Syndrome Epidemiology The Renal Fanconi Syndrome epidemiology section provides insights into the historical and ...
We herein report an 81-year-old woman with Fanconi syndrome and osteomalacia who had been diagnosed with metastatic breast ... A Case of Fanconi Syndrome Associated with Long-term Treatment with Zoledronate. ... A Case of Fanconi Syndrome Associated with Long-term Treatment with Zoledronate. ...
Fragmentation of filtered proteins and implications for glomerular protein sieving in Fanconi syndrome. ... Fragmentation of filtered proteins and implications for glomerular protein sieving in Fanconi syndrome. ...
Fanconi syndrome. Autosomal recessive (rarely, X-linked recessive or autosomal dominant). FANCA, FANCC, FANCG ... Felty syndrome is a syndrome of rheumatoid arthritis, splenomegaly, and neutropenia. Splenectomy produces an initial response, ... Most cases of Shwachman-Diamond syndrome are caused by mutations in the SBDS gene. [30] The precise function of this gene is ... Shwachman-Diamond syndrome and X-linked dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), and Diamond-Blackfan ...
Fanconi Syndrome. Kidney tubular dysfunction requires a high intake of fluids and electrolytes to prevent excessive loss of ...
We report 12 cases of pSS characterized by Fanconi syndrome. The decreased megalin and cubilin expression may contribute to the ... This study reports the clinical and pathological features of 12 cases of primary Sjogren syndrome (pSS) with renal involvement ... Fanconis syndrome and distal (type 1) renal tubular acidosis in a patient with primary Sjogrens syndrome with monoclonal ... Sjogrens syndrome, renal tubular acidosis and Fanconi syndrome-a case report. Zhonghua Yi Xue Za Zhi. 2005;85:878. ...
Fanconi syndrome with osteomalacia can develop in patients with chronic hepatitis B infection being treated with adefovir at a ... adefovir-induced hypophosphatemic osteomalacia due to acquired renal Fanconi syndrome was suspected by the clinical pharmacist ... Drug-induced Fanconi syndrome. Antiviral drugs are the main cause of Fanconi syndrome. Nucleoside reverse transcriptase ... Xiang, Q., Liu, Z., Yu, Y. et al. Osteomalacia and renal failure due to Fanconi syndrome caused by long-term low-dose Adefovir ...
Fanconis syndrome. *Interstitial nephritis. *Metabolic alkalosis (bicarbonaturia). Genetic disorder of the nephron *Bartters ... Congenital abnormality of steroid metabolism (eg, adrenogenital syndrome, 17?-hydroxylase defect). Increased flow of distal ...
... is a clinical syndrome characterized by hyperchloremic metabolic acidosis with a normal serum anion gap. Adult patients with ... Fanconi syndrome is due to dysfunction of the renal proximal tubule resulting in the urinary loss of substances normally ... The pathophysiologic basis of these abnormalities depends upon the specific cause of the individual patients Fanconi syndrome. ... Renal tubular acidosis (RTA) is a clinical syndrome characterized by hyperchloremic metabolic acidosis with a normal serum ...
Fanconi Syndrome (Off-label). Delayed-release capsule (Procysbi). Used to reduce cystine levels, potentially delaying kidney ... Skin and bone lesions that resemble clinical findings for Ehlers-Danlos-like syndrome reported in patients treated with high ... Skin: Erythema multiforme bullosa, toxic epidermal necrolysis, Ehlers-Danlos-like syndrome, molluscoid pseudotumors, skin ...
Hypophosphatemia is associated with rickets, hyperparathyroidism, and Fanconi syndrome. Measurements of inorganic phosphorus ... Hypophosphatemia is associated with rickets, hyperparathyroidism, and Fanconi syndrome. Measurements of inorganic phosphorus ... Hypernatremia (increased serum sodium level) is associated with Cushings syndrome, severe dehydration due to primary water ... and blue diaper syndrome. Low calcium levels are associated with hypoparathyroidism, pseudo-hypoparathyroidism, chronic renal ...
Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome. ... Serotonin Syndrome after Sertraline Overdose in a Child: A Case Report. Joana Grenha , Ana Garrido , ... , Fátima Santos ... Fetal Limb Ischaemia in Twin-to-Twin Transfusion Syndrome. Mark Kilby , Rachel Pounds , Paul Mannix ... The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families. Katia Perruccio , Francesco Arcioni , ... , Maurizio ...
  • citation needed] It is named after Guido Fanconi, a Swiss pediatrician, although various other scientists, including George Lignac, contributed to its study. (wikipedia.org)
  • The renal syndrome that is associated with the Swiss pediatrician Guido Fanconi was actually described in parts and under various names by several investigators who preceded him. (medscape.com)
  • Guido Fanconi discovered Fanconi anemia in 1927. (facty.com)
  • In 1927, Guido Fanconi first reported 3 brothers with macrocytosis, pancytopenia, and physical abnormalities. (medscape.com)
  • citation needed] Different forms of Fanconi syndrome can affect different functions of the proximal tubule, and result in different complications. (wikipedia.org)
  • Evidence supporting this hypothesis can be found in various experimental models and clinical forms of Fanconi syndrome. (medscape.com)
  • Differential diagnoses for the various forms of Fanconi syndrome are based on the patient's history and the presence of specific extrarenal manifestations. (medscape.com)
  • It should not be confused with Fanconi anemia, a separate disease. (wikipedia.org)
  • citation needed] It was shown that a specific mutation (R76W) of HNF4A, a gene encoding a transcription factor, causes Fanconi syndrome in human. (wikipedia.org)
  • Heavy metal toxicity, such as lead poisoning, which is more prevalent in children than adults, causes Fanconi syndrome due to the immune system factors that impair tubule function. (facty.com)
  • citation needed] Other recognised causes are Wilson's disease (a genetically inherited condition of copper metabolism), Lowe syndrome, tyrosinemia (type I), galactosemia, glycogen storage diseases, and hereditary fructose intolerance. (wikipedia.org)
  • Bickel H, Manz F. Hereditary tubular disorders of the Fanconi type and the idiopathic Fanconi syndrome. (medscape.com)
  • Non-FA (or underlying FA) patients harboring heterozygous germline FA gene mutations may also face an increased risk of developing bone marrow failure, primary immunodeficiency disease, and hereditary cancer predisposition syndromes. (frontiersin.org)
  • Both rickets and osteomalacia are related to Fanconi syndrome. (facty.com)
  • Examinations of children and adults with Fanconi syndrome showed evidence of rickets and osteomalacia, respectively. (facty.com)
  • We herein report an 81-year-old woman with Fanconi syndrome and osteomalacia who had been diagnosed with metastatic breast cancer and received treatment with zolendronate for over 5 years. (bvsalud.org)
  • Based on the changes in the patient's laboratory markers and the results of emission computed tomography and other radiographic findings, adefovir-induced hypophosphatemic osteomalacia due to acquired renal Fanconi syndrome was suspected by the clinical pharmacist. (biomedcentral.com)
  • Fanconi syndrome with osteomalacia can develop in patients with chronic hepatitis B infection being treated with adefovir at a conventional low dosage of 10 mg/day. (biomedcentral.com)
  • Finally, this case was diagnosed by a multidisciplinary clinic as severe hypophosphatemia osteomalacia and renal Fanconi syndrome induced by low-dose ADV. (biomedcentral.com)
  • The diagnosis of Fanconi syndrome is made based on tests that document the excessive loss of substances in the urine (eg, amino acids, glucose, phosphate, bicarbonate) in the absence of high plasma concentrations. (medscape.com)
  • This led to the identification of patients with Fanconi anemia and aplastic anemia without birth defects and the diagnosis of Fanconi anemia in patients without aplastic anemia but with abnormal physical findings. (medscape.com)
  • The advent of molecular diagnostics has further improved the specificity of Fanconi anemia diagnosis. (medscape.com)
  • Due to the increased susceptibility to the development of cancer in this specific population, it is important for the dentist to know the common oral manifestations and potentially cancerous lesions, in order to make an early diagnosis in individuals with Fanconi Anemia. (bvsalud.org)
  • Fanconi syndrome or Fanconi's syndrome (English: /fɑːnˈkoʊni/, /fæn-/) is a syndrome of inadequate reabsorption in the proximal renal tubules of the kidney. (wikipedia.org)
  • Deletion of Hnf4a in the developing mouse kidney caused Fanconi syndrome phenotypes including polyruia, polydipsia, glycosuria, and phosphaturia. (wikipedia.org)
  • Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead. (medlineplus.gov)
  • Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. (medlineplus.gov)
  • Fanconi syndrome and chronic kidney disease in paroxysmal nocturnal hemoglobinuria: effect of eculizumab therapy. (medscape.com)
  • Pet Blood tests may indicate canine kidney failure and urine tests may reveal sugar indicative of Fanconi syndrome. (chagrinfallspetclinic.com)
  • Recent studies suggest that Th17 cells, a subset of CD4 + T cells, may directly contribute to lymphoneogenesis in labial glands of pSS patients [ 11 ], but it is unclear whether a similar process occurs in the kidney of pSS patients with Fanconi syndrome. (biomedcentral.com)
  • Fanconi syndrome is due to dysfunction of the renal proximal tubule resulting in the urinary loss of substances normally reabsorbed by the kidney at this site, such as bicarbonate, glucose, amino acids, phosphate, small proteins, and uric acid. (bmj.com)
  • Cystinosis is the most common cause of Fanconi syndrome in children. (wikipedia.org)
  • When Fanconi syndrome occurs because of cystinosis, failure to thrive and growth retardation are common. (msdmanuals.com)
  • Cystinosis is one of the most common causes of Fanconi syndrome in children and affects about one in every 200,000 births. (facty.com)
  • It was described for the first time by Fanconi in 1927, in a case report of three brothers with a condition of progressive anemia, pancytopenia, physical anomalies and hyperpigmentation of the skin 1 . (bvsalud.org)
  • Fanconi anemia (FA) is a rare recessive, human genetic syndrome characterized by progressive bone marrow failure, developmental abnormalities, predisposition to malignancy, chromosomal instability and DNA damage hypersensitivity. (nih.gov)
  • While children with Fanconi anemia may have malformed kidneys, among other symptoms, it is mostly a disease of the bone marrow, not the kidneys. (facty.com)
  • Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs). (medscape.com)
  • Hematopoietic stem cell transplantation (bone marrow, cord blood, or peripheral blood stem cells) may cure aplastic anemia and prevent myelodysplastic syndrome or leukemia. (medscape.com)
  • The bone marrow failure syndromes. (medscape.com)
  • Pathophysiology of inherited bone marrow failure syndromes. (medscape.com)
  • Fanconi anemia is rare overall, but it is one of the most common inherited bone marrow failure syndromes. (wikidoc.org)
  • If you have low uric acid levels due to Fanconi syndrome, you may develop bone pain or feel unusually weak. (livestrong.com)
  • Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs), with approximately 2000 cases reported in the medical literature. (medscape.com)
  • Aplastic anemia due to the progressive failure of the bone marrow, malignant neoplasias such as acute myeloid leukemia, liver tumors and squamous cell carcinoma are some of the possible evolutions of Fanconi Anemia. (bvsalud.org)
  • An increased risk for the development of malignant neoplasias in individuals with Fanconi Anemia has been reported, and this is progressive after bone marrow transplantation. (bvsalud.org)
  • The only exception is the idiopathic form of the syndrome. (medscape.com)
  • Elevated total serum calcium levels are associated with idiopathic hypercalcemia, vitamin D intoxication, hyperparathyroidism, sarcoidosis, pneumocystic carinii pneumonia, and blue diaper syndrome. (cdc.gov)
  • Objective -To evaluate survival time of dogs with idiopathic Fanconi syndrome. (avma.org)
  • Animals -60 dogs with idiopathic Fanconi syndrome. (avma.org)
  • Procedure -Data were collected by means of questionnaires distributed to owners and veterinarians of dogs with idiopathic Fanconi syndrome and by examination of medical records when accessible. (avma.org)
  • Conclusions and Clinical Relevance -Results suggest that expected lifespan for dogs with idiopathic Fanconi syndrome was not substantially reduced, compared with expected lifespan for unaffected dogs, and that affected dogs generally had a good to excellent quality of life, as subjectively assessed by their owners. (avma.org)
  • The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity (for example, from toxic heavy metals), or by adverse drug reactions. (wikipedia.org)
  • Many different diseases can cause Fanconi syndrome. (medlineplus.gov)
  • This study reports the clinical and pathological features of 12 cases of primary Sjogren syndrome (pSS) with renal involvement presenting with proximal tubular dysfunction in a single center, and investigates the possible correlation of ectopic germinal center formation and megalin/cubilin down-expression. (biomedcentral.com)
  • In people with Fanconi syndrome or FS, a defect in the proximal tubules causes poor reabsorption of nutrients and results in lifelong health issues. (facty.com)
  • DelveInsight's "Renal Fanconi Syndrome Market Insights, Epidemiology, and Market Forecast-2032 " report delivers an in-depth understanding of Renal Fanconi Syndrome, historical and forecasted epidemiology as well as the Renal Fanconi Syndrome market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom), and Japan. (idahonewsupdates.com)
  • The Renal Fanconi Syndrome epidemiology section provides insights into the historical and current Renal Fanconi Syndrome patient pool and forecasted trends for seven individual major countries. (idahonewsupdates.com)
  • 1. AIDS: Acquired immune deficiency syndrome Acquired immunodeficiency syndrome 2. (cdc.gov)
  • Children with Fanconi syndrome usually have a short stature, are frail, have a low muscle tone, and have signs of florid rickets , such as frontal bossing, rosaries, leg bowing, and widening of the wrists, knees, and ankles. (medscape.com)
  • In 1931, Fanconi described a child who had glucosuria and albuminuria in addition to rickets and dwarfism. (medscape.com)
  • Because of the large number of transport abnormalities observed in Fanconi syndrome, these anomalies are not likely due to alterations in the carriers, which are specific for each of the substances reabsorbed in the proximal tubule. (medscape.com)
  • In acquired Fanconi syndrome, adults present with the laboratory abnormalities of renal tubular acidosis (proximal type 2-see table Some Features of Different Types of Renal Tubular Acidosis ), hypophosphatemia, and hypokalemia. (msdmanuals.com)
  • Due to the inherent renal abnormalities, half of all cases develop Fanconi syndrome. (facty.com)
  • The pathophysiologic basis of these abnormalities depends upon the specific cause of the individual patient's Fanconi syndrome. (bmj.com)
  • The high percentage of dogs with neurologic abnormalities was a concern, but whether this was related to Fanconi syndrome or represented a breed-related predisposition to neurologic disease could not be determined. (avma.org)
  • The aim of this critical review of the literature was to discourse about the main oral manifestations and their involvement in the health of individuals who are ill with Fanconi Anemia. (bvsalud.org)
  • The most striking clinical feature of Fanconi syndrome is failure to thrive . (medscape.com)
  • In this study, we report the clinical and pathological characteristics and therapeutic outcomes of 12 patients with pSS and Fanconi syndrome. (biomedcentral.com)
  • Renal tubular acidosis (RTA) is a clinical syndrome characterized by hyperchloremic metabolic acidosis with a normal serum anion gap. (bmj.com)
  • Fanconi anemia accounts for approximately 25% of the cases of aplastic anemia seen at large referral centers. (medscape.com)
  • The genetic form of Fanconi syndrome is either X-linked, autosomal recessive, or autosomal dominant. (facty.com)
  • The Fanconi that basenjis get is genetic and cannot be reversed but only treated. (basenjiforums.com)
  • Fanconi Anemia is a recessive and rare genetic disorder, characterized by chromosomal instability that induces congenital alterations in individuals. (bvsalud.org)
  • Fanconi Anemia (FA) is a recessive genetic disorder, in which individuals present congenital alterations associated with consanguinity. (bvsalud.org)
  • Common causes of lower-than-normal uric acid levels include Wilson's disease -- a disease in which copper abnormally accumulates in your vital organs, and Fanconi syndrome -- a condition in which your kidneys allow certain waste products to be reabsorbed by your bloodstream rather than passing into your urine and out of your body. (livestrong.com)
  • If your body fluids don't contain enough salt due to a condition called the syndrome of inappropriate antidiuretic hormone secretion or SIADH, the amount of uric acid in your blood may also be unusually low. (livestrong.com)
  • Two forms, Dent's disease and Lowe syndrome, are X linked. (wikipedia.org)
  • Lowe syndrome is a disorder that affects the brain, kidneys, and eyes. (facty.com)
  • Boys born with Lowe syndrome have weak muscle tone, delayed development, seizures, and eye problems, such as bilateral cataracts or glaucoma. (facty.com)
  • citation needed] Familial renal disease in animals for Fanconi syndrome in Basenjis "Fanconi syndrome" at Dorland's Medical Dictionary Fanconi Syndrome at Merck Manual Home Health Handbook Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K (March 2010). (wikipedia.org)
  • I have had 3 Basenjis with Fanconi Syndrome and the group was always helpful. (basenjiforums.com)
  • Acquired fanconi syndrome induced by mixed Chinese herbs presenting as proximal muscle weakness. (medscape.com)
  • Fanconi syndrome affects the proximal tubules, namely, the proximal convoluted tubule (PCT), which is the first part of the tubule to process fluid after it is filtered through the glomerulus, and the proximal straight tubule (pars recta), which leads to the descending limb of loop of Henle. (wikipedia.org)
  • Additionally, Fanconi Syndrome can develop as a secondary or tertiary effect of certain autoimmune disorders. (wikipedia.org)
  • Fanconi syndrome and other proximal tubule disorders. (medlineplus.gov)
  • Approximately 25% of known patients with Fanconi anemia do not have major birth defects. (medscape.com)
  • Birth defects (present in up to 75% of Fanconi anemia patients, depending on the level of scrutiny) associated with Fanconi anemia are demonstrated in the images below. (medscape.com)
  • Reversible Fanconi syndrome in a pediatric patient on deferasirox. (medscape.com)
  • Fanconi syndrome, the result of proximal tubule epithelial cell (PTEC) injury leading to proximal RTA (type II RTA), hypophosphatemia, hypouricemia, aminoaciduria, glycosuria and urine loss of low molecular weight proteins, is a rare manifestation of pSS. (biomedcentral.com)
  • MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. (medscape.com)
  • Open to Fanconi Anemia patients ages 21-45, who are occasional alcohol drinkers and non-smokers. (fanconi.org)
  • This study seeks to understand and identify specific types of DNA damage formed from drinking alcohol that could affect cancer formation in patients with Fanconi Anemia. (fanconi.org)
  • Open to Fanconi anemia patients of all subtypes, ages 2+. (fanconi.org)
  • All patients diagnosed with primary Sjogren syndrome with renal Fanconi syndrome in Peking Union Medical College Hospital (PUMCH) from 1994 to 2014 were enrolled. (biomedcentral.com)
  • An analysis of 754 patients in the International Fanconi Anemia Registry (IFAR) suggested that the average age of onset is 7.6 years. (wikidoc.org)
  • Moreover, the simultaneous occurrence of cancer and AIP in many patients has led to the establishment of an attractive concept that AIP might sometimes arise from co-existing cancers as a paraneoplastic syndrome. (go.jp)
  • Fanconi syndrome is a condition that affects how your kidneys reabsorb certain essential substances. (idahonewsupdates.com)
  • citation needed] Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine (mainly fluid and bicarbonate). (wikipedia.org)
  • The treatment of a child with Fanconi syndrome mainly consists of the replacement of substances lost in the urine. (medscape.com)
  • The effect of thymoquinone (TQ), the main constituent of the Nigella sativa L. oil, on ifosfamide (IFO)-induced Fanconi syndrome (FS) and its antitumor activity were investigated in rats and mice, respectively. (bue.edu.eg)
  • Badary, Osama A., "Thymoquinone attenuates ifosfamide-induced Fanconi syndrome in rats and enhances its antitumor activity in mice" (1999). (bue.edu.eg)
  • Historically, the heterozygote frequency for pathogenic Fanconi anemia mutations has been estimated to be 1:300 in the United States and Europe and 1:100 in Ashkenazi Jews and South Africans. (wikidoc.org)
  • (B) The patient was born with four Fanconi anemia (FA) gene mutations and germline predisposition to cancers. (frontiersin.org)
  • Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. (medscape.com)
  • The Renal Fanconi Syndrome market report provides current treatment practices, emerging drugs, the market share of the individual therapies, and the current and forecasted Renal Fanconi Syndrome market size from 2019 to 2032, segmented by seven major markets. (idahonewsupdates.com)
  • According to DelveInsight, the Renal Fanconi Syndrome market in 7MM is expected to witness a major change in the study period 2019-2032. (idahonewsupdates.com)
  • This section focuses on the uptake rate of the potential Renal Fanconi Syndrome drugs recently launched in the Renal Fanconi Syndrome market or expected to be launched in 2019-2032. (idahonewsupdates.com)
  • Congenital abnormality of steroid metabolism (eg, adrenogenital syndrome, 17? (unboundmedicine.com)
  • The risk of myelodysplastic syndrome in Fanconi anemia is about 5000-fold. (medscape.com)
  • [2] Kashoor I, Batlle D. Proximal renal tubular acidosis with and without Fanconi syndrome. (bmj.com)
  • Acquired Fanconi Syndrome Associated With Prolonged Adefovir Dipivoxil Therapy in a Chronic Hepatitis B Patient. (medscape.com)
  • Primary Sjogren syndrome (pSS) is a chronic autoimmune epithelialitis targeting exocrine glands, with possible multisystem involvement [ 1 ]. (biomedcentral.com)
  • I believe that some pet treats from China have caused Fanconi or a Fanconi-like syndrome, but I believe that this sort of Fanconi is reversible. (basenjiforums.com)
  • The type of Fanconi syndrome with which a person is diagnosed depends on which nutrients their body cannot reabsorb. (facty.com)
  • The Report also covers current Renal Fanconi Syndrome treatment practice/algorithm, market drivers, market barriers, and unmet medical needs to curate the best opportunities and assesses the underlying potential of the Renal Fanconi Syndrome market. (idahonewsupdates.com)
  • Learn more about Renal Fanconi Syndrome, treatment algorithms in different geographies, and patient journeys. (idahonewsupdates.com)
  • A Case of Fanconi Syndrome Associated with Long-term Treatment with Zoledronate. (bvsalud.org)