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Fanconi Syndrome (Syndrome, Fanconi)

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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.

Also Known As:

Syndrome, Fanconi; Fanconi Renotubular Syndrome; Idiopathic De Toni-Debre-Fanconi Syndrome; Neonatal De Toni-Debre-Fanconi Syndrome; Primary Toni-Debre-Fanconi Syndrome; Toni-Debre-Fanconi Syndrome; De Toni Debre Fanconi Syndrome; Idiopathic De Toni Debre Fanconi Syndrome; Lignac Fanconi Syndrome; Neonatal De Toni Debre Fanconi Syndrome; Primary Toni Debre Fanconi Syndrome; Syndrome, De Toni-Debre-Fanconi; Syndrome, Fanconi Renotubular; Syndrome, Lignac-Fanconi; Toni Debre Fanconi Syndrome; Toni-Debre-Fanconi Syndrome, Primary; De Toni-Debre-Fanconi Syndrome; Lignac-Fanconi Syndrome; Proximal Renal Tubular Dysfunction; Renal Fanconi Syndrome

Networked: 398 relevant articles (8 outcomes, 26 trials/studies) for this Disease, Comments

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Renal Tubular Acidosis (Distal Renal Tubular Acidosis)
2.	Glycosuria
3.	Cystinosis
4.	Hypophosphatemia
5.	Glycogen Storage Disease (Glycogenosis)

Experts

1.	Unwin, Robert J: 6 articles (08/2007 - 01/2002)
2.	Kleta, Robert: 5 articles (05/2006 - 08/2002)
3.	Gahl, William A: 5 articles (05/2006 - 12/2003)
4.	Watanabe, Toru: 5 articles (06/2005 - 01/2002)
5.	Norden, Anthony G W: 5 articles (11/2004 - 01/2002)
6.	Cutillas, Pedro R: 4 articles (08/2007 - 05/2003)
7.	Fakhouri, Fadi: 3 articles (08/2010 - 09/2005)
8.	Izzedine, Hassane: 3 articles (04/2010 - 05/2005)
9.	Deray, Gilbert: 3 articles (02/2009 - 05/2005)
10.	van den Heuvel, Lambertus P: 3 articles (11/2008 - 11/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fanconi Syndrome:

1.	Uric Acid (Urate)IBA 09/01/2002 - "RESULTS: The patient presented with severe hypouricaemia (serum uric acid 95.2 micro mol/l) due to renal urate wasting associated with a cluster of other metabolic abnormalities in the context of a reversible generalized dysfunction of the proximal tubules that mimicked Fanconi syndrome. " 01/01/1977 - "Renal tubular transport of urate in Fanconi syndrome." 09/01/1978 - "Nine patients (53%) developed proximal renal tubular dysfunction with aminoaciduria, hyperphosphaturia and incomplete reabsorption of urate. " 01/01/1977 - "A patient with asymptomatic adult Fanconi syndrome with glycosuria, amino-aciduria, hypophosphatemia, and renal tubular acidosis was found to have hypouricemia (serum uric acid, 1.5-1.8 mg/100 ml) secondary to increased renal clearance of urate (urate clearance/glomerular filtration rate, 32 per cent). " 04/24/2004 - "Hypouricemia can also be isolated and justifies the measurement of uric acid clearance, the normality or reduction of which orients towards a deficiency in xanthine-oxydase, the increase in which suggests an abnormality in uric acid transport in the proximal tubule (Fanconi syndrome, primary hereditary anomaly of tubular uric acid transport). " Order ALL the reference details at left...
2.	maleic acid (maleate)IBA 01/01/2007 - "Maleic Acid is commonly used in research studies to induce Fanconi syndrome in rats and dogs in an attempt to study the mechanism of this disease. " 04/01/2006 - "Detection of maleate-induced Fanconi syndrome by decreasing accumulation of 125I-3-iodo-alpha-methyl-L-tyrosine in the proximal tubule segment-1 region of renal cortex in mice: a trial of separate evaluation of reabsorption." 11/01/1988 - "We conclude, therefore, that SA has a more complex action on the rat renal tubule than sodium maleate, and is likely a much more physiologic model for study of the human renal Fanconi syndrome." 09/01/1983 - "Intestinal amino acid absorption in the Fanconi syndrome: studies in patients and in rats with the maleic acid induced syndrome." 08/01/1978 - "A study has been made of urinary peptide output in rats before and after production of a Fanconi syndrome induced by a single injection of sodium maleate. " Order ALL the reference details at left...
3.	CalciumIBA 06/01/1958 - "[Transitory change of amino-aciduria during calcium perfusion in Toni-Debré-Fanconi syndrome.]" 08/01/1995 - "Children with nephropathic cystinosis excrete large amounts of calcium and phosphate due to renal tubular Fanconi syndrome, and also receive substantial supplements of phosphate and alkalinizing agents. " 02/20/1982 - "But NcAMP was not suppressed in all 4 patients with skeletal hyperparathyroidism including one with proximal renal tubular dysfunction whose basal iPTH was elevated markedly but reduced clearly by the calcium load. " 05/01/1971 - "Calcium deficiency rickets?: Fanconi syndrome?" 08/01/2007 - "Two knockout mouse models of Dent disease are similar with regard to the characteristics of Fanconi syndrome, but differ markedly with respect to vitamin D and renal calcium handling. " Order ALL the reference details at left...
4.	PotassiumIBA 08/01/2010 - "Urine potassium levels were elevated, and the transtubular potassium gradient (TTKG) was 6.6, consistent with hypokalemic RTA with associated Fanconi syndrome, which presented as hyperphosphaturia, uricaciduria, and loss of protein and sugar in the urine. " 01/01/1971 - "The mechanism of renal potassium wasting in renal tubular acidosis associated with the Fanconi syndrome (type 2 RTA) was investigated in 10 patients, each of whom had impaired proximal renal tubular reabsorption of bicarbonate as judged from a greater than 15-20% reduction of renal tubular bicarbonate reabsorption (THCO(3) (-)) at normal plasma bicarbonate concentrations. " 01/01/1971 - "On the mechanism of renal potassium wasting in renal tubular acidosis associated with the Fanconi syndrome (type 2 RTA)." 03/01/1971 - "IN TWO PATIENTS WITH CLASSIC RENAL TUBULAR ACIDOSIS (RTA) AND IN TWO PATIENTS WITH RTA ASSOCIATED WITH THE FANCONI SYNDROME, RENAL POTASSIUM WASTING PERSISTED DESPITE SUSTAINED CORRECTION OF ACIDOSIS: (a) during moderate degrees of hypokalemia, daily urinary excretion of potassium exceeded 80 mEq in each patient; (b) during more severe degrees of hypokalemia, daily urinary excretion of potassium exceeded 40 mEq in two patients and 100 mEq in another. " 09/01/2005 - "Laboratory studies showed profound hypokalemia with renal potassium (K) wasting, hyperchloremic metabolic acidosis, hypophosphatemia with hyperphosphaturia, hypouricemia with hyperuricosuria, and glycosuria, consistent with Fanconi syndrome. " Order ALL the reference details at left...
5.	Ifosfamide FDA LinkGeneric 09/01/2008 - "The Fanconi syndrome is a common side effect of the chemotherapeutic agent ifosfamide. " 07/01/2007 - "About 10% of children develop Fanconi syndrome (FS) a few months after ifosfamide (IFO) treatment. " 07/01/2007 - "Efforts to establish an animal model of Fanconi syndrome after ifosfamide administration to rats." 11/01/2006 - "Renal Fanconi syndrome occurs in about 1-5% of all children treated with Ifosfamide (Ifo) and impairment of renal phosphate reabsorption in about 20-30% of them. " 04/01/2004 - "The article is a case presentation of Fanconi syndrome in a patient treated with high doses of ifosfamide. " Order ALL the reference details at left...
6.	Glucose (Dextrose)FDA LinkGeneric 01/01/2003 - "Renal dysfunction develops in up to 7% of the general population and in its most severe form displays major features of Fanconi syndrome, such as a defective protein, amino acid, glucose, bicarbonate and phosphate reabsorption. " 10/01/2000 - "HNF1alpha-null mice are diabetic, but at the same time suffer from a renal Fanconi syndrome characterized by urinary glucose loss. " 04/11/1984 - "Acta 733, 95-101) we reported that the Na+-dependent D-glucose uptake into brush-border membrane vesicles is decreased in rabbits with experimental Fanconi syndrome (induced by anhydro-4-epitetracycline). " 04/11/1984 - "The mechanism of decreased Na+-dependent D-glucose transport in brush-border membrane vesicles from rabbit kidneys with experimental Fanconi syndrome." 08/24/1983 - "Decreased Na+-gradient-dependent D-glucose transport in brush-border membrane vesicles from rabbits with experimental Fanconi syndrome." Order ALL the reference details at left...
7.	Amino Acids FDA Link 11/12/1946 - "Partition chromatography on paper: a qualitative method for identifying amino acids in urine, and its application to the Fanconi syndrome." 12/31/1986 - "[A monodimensional electrophoretic picture of urinary amino acids in de Toni-Debré-Fanconi syndrome caused by cystinosis]" 04/01/2006 - "OBJECTIVE: Fanconi syndrome is a renal dysfunction characterized by various combinations of renal tubular transport dysfunction involving amino acids, glucose, protein and other substances. " 08/01/1995 - "The Fanconi syndrome is caused by numerous disorders including cystinosis and Lowe's syndrome, and refers to a dysfunction of the proximal tubule leading to excessive urinary excretion of amino acids, glucose, phosphate, bicarbonate, etc. Prognosis of idiopathic Fanconi syndrome is not so bad if electrofluid balance is well maintained. " 02/01/1982 - "Other disorders occur due to loss of affinity or capacity of the cellular active transport systems for specific solutes, such as amino acids (renal aminoacidurias), glucose (renal glycosurias) and bicarbonate (proximal renal tubular acidosis), or for all solutes (Fanconi syndrome). " Order ALL the reference details at left...
8.	Vitamin D FDA LinkGeneric 11/01/1984 - "Evidence for a defect in vitamin D metabolism in a patient with incomplete Fanconi syndrome." 09/01/1977 - "Treatment with oral pancreatic and parenteral vitamin D supplements led to full recovery of the rachitic syndrome and the proximal renal tubular dysfunction." 03/01/1986 - "A patient affected with Debrè-De Toni-Fanconi syndrome secondary to cystinosis, has been given doses of vitamin D metabolites. " 03/01/1986 - "[Determination of metabolites of vitamin D in a case of Debré-De Toni-Fanconi syndrome secondary to cystinosis]" 01/01/1985 - "The data supports the hypothesis that renal 1 alpha-hydroxylase activity may be impaired in human Fanconi syndrome, and that altered vitamin D metabolism may contribute to the pathogenesis of metabolic bone disease in Fanconi syndrome." Order ALL the reference details at left...
9.	ElectrolytesIBA 07/01/2009 - "BACKGROUND: The renal Fanconi syndrome (FS) is characterized by renal glucosuria, loss of electrolytes, bicarbonate and lactate, generalized hyperaminoaciduria and low-molecular-weight proteinuria. " 04/01/2007 - "Investigations revealed lactic acidosis, electrolytic imbalance and urinary loss of glucose and electrolytes secondary to proximal renal tubulopathy consistent with Fanconi syndrome (FS). " 01/01/1984 - "In 10 patients with renal tubular acidosis, seven with type I and three with Fanconi syndrome, simultaneous measurements of vitamin D metabolites and electrolytes were made. " 09/15/1982 - "In idiopathic Fanconi syndrome, cystinosis, oculocerebrorenal syndrome and glycogenosis Fanconi-Bickel, a symptomatic replacement treatment based on supplementation of water, electrolytes and vitamin D has improved the non-uremic survival of these patients considerably within the last 20 years. " 07/01/2005 - "Urine chemistry, electrolyte panel, and clinical presentation were consistent with Fanconi syndrome, a generalized proximal tubular dysfunction involving proteins, glucose, uric acid, and electrolytes. " Order ALL the reference details at left...
10.	sodium phosphate (trisodium phosphate)FDA LinkGeneric 10/01/1967 - "The treatment of adult phosphate diabetes and Fanconi syndrome with neutral sodium phosphate." 07/01/2007 - "The results demonstrated that IFO induced a Fanconi syndrome characterized by increased urinary sodium, phosphate, glucose and protein, along with increased serum creatinine and urea levels. " 08/01/2004 - "The results demonstrated that IFO induced a Fanconi syndrome (FS) characterized by wasting of sodium, phosphate, and glucose, along with increased serum creatinine and urea. " 09/01/1999 - "These animals suffer from severe Fanconi syndrome related to decreased expression of proximal transporters including isoforms of sodium-glucose (SGLT2) and sodium-phosphate (NPT1) cotransporters. " 12/01/1986 - "During the acute renal tubular dysfunction of Fanconi syndrome and type 2 renal tubular acidosis (FS/RTA2) induced by maleic acid in the unanesthetized dog, we observed: 30 minutes after the onset of FS/RTA2, the urinary excretion of lysosomal enzymes, N-acetyl-beta-glucosaminidase (NAG), beta-glucuronidase (beta-gluc) and beta-galactosidase (beta-galac), increased simultaneously with the anticipated increase in renal clearance of lysozyme; the severities of all these hyperenzymurias increased rapidly, progressively, and in parallel, all reaching a peak some 60 to 80 minutes after their onset; thereafter, while the FS/RTA2 continued undiminished in severity, the severity of the hyperenzymurias decreased rapidly, greatly, progressively, and in parallel; and sodium phosphate loading strikingly attenuated the FS/RTA2 and the hyperenzymurias. " Order ALL the reference details at left...

Therapies and Procedures

1.	Kidney Transplantation 01/01/1978 - "Renal transplantation in the father has improved kidney function with no evidence of Fanconi syndrome. " 01/06/1972 - "Kidney transplantation in Fanconi syndrome." 05/01/2006 - "Renal tubular Fanconi syndrome occurs in infancy, followed by rickets, growth retardation, photophobia, and renal failure, which requires renal transplantation at approximately 10 yr of age. " 12/01/1992 - "Since recurrent Fanconi syndrome was seen after transplantation in one patient, anti-TBM antibodies were removed by plasmapheresis prior to kidney transplantation in the other two patients. " 04/01/1985 - "The highest diamine oxidase activity was found in the patients affected with nephrosis, the Fanconi syndrome and renal transplantation, showing a relationship between urinary enzymatic activity and tubular damage, in accordance with the localization in the convoluted tubules." Order ALL the reference details at left...
2.	Drug Therapy (Chemotherapy) 04/01/2004 - "RESULTS: Fanconi Syndrome symptoms were noticed before introduction of chemotherapy. " 08/01/2005 - "The diagnosis work-up revealed that she suffered from osteomalacia due to a chemotherapy-induced Fanconi syndrome. " 08/01/2005 - "BACKGROUND: Chemotherapy-induced Fanconi syndrome is a dangerous condition that could lead to severe electrolyte disturbances and rarely to osteomalacia. " 08/01/2005 - "Osteomalacia due to chemotherapy-induced Fanconi syndrome in an adult patient." 05/01/1992 - "Two patients developed renal Fanconi syndrome (RFS) after intensive long-term chemotherapy for metastatic Ewing sarcoma and disseminated neuroblastoma. " Order ALL the reference details at left...
3.	Aftercare (After-Treatment) 01/01/1990 - "Adult Fanconi syndrome secondary to kappa-light chain myeloma: improvement of tubular functions after treatment for myeloma." 08/01/1993 - "Both acute renal failure and Fanconi syndrome resolved after treatment with prednisone." 01/01/1995 - "We measured sodium-proton (Na+/H+) exchange in lymphocytes and platelets of a 46-year-old woman with the adult Fanconi syndrome before, during, and after treatment with NaHCO3. " 08/01/1990 - "The renal tubular Fanconi syndrome developed in five patients with Wilms tumor after treatment with ifosfamide, a derivative of cyclophosphamide. " 07/01/2009 - "OBJECTIVE: To describe a case of acquired Fanconi syndrome after treatment with capecitabine, irinotecan, and bevacizumab. " Order ALL the reference details at left...
4.	Transplants (Transplant) 07/01/1995 - "Two of four recipients of marrow from presumed Fanconi syndrome heterozygotes presented with poor graft function and a third recipient developed graft failure after initial evidence of engraftment. " 07/01/1995 - "The 57 of 253 (23%) member centres which responded to the survey reported seven transplants from donors with the following conditions: Down syndrome (n = 2), suspected heterozygotes for Fanconi syndrome (n = 3), and 47,XXX syndrome (n = 2), among a total of 5,561 allogeneic transplants from HLA-identical siblings. " 07/01/1995 - "The much higher than expected incidence of graft problems with marrow from such a donor would make it reasonable to look either for an alternative marrow donor or consider an autologous transplant, in case a sibling marrow donor with Down syndrome or heterozygosity for Fanconi syndrome is encountered, although a donor with trisomy X seems acceptable." 07/01/1995 - "The experience reported here shows a low frequency of encountering an HLA-identical sibling donor who has chromosomal abnormalities in marrow cells consistent with Down syndrome or heterozygosity for Fanconi syndrome, about one case among 1,000 transplants. " 07/01/1995 - "Down syndrome or heterozygosity for Fanconi syndrome) are suitable donors for allogeneic bone marrow transplants, we have reviewed the patient files at the Fred Hutchinson Cancer Research Center (FHCRC) and carried out a survey among member centres of the International Bone Marrow Transplant Registry (IBMTR). " Order ALL the reference details at left...
5.	Transplantation (Transplant Recipients) 02/01/2008 - "Three yr after transplantation she developed renal Fanconi syndrome with severe metabolic acidosis, hypophosphatemia, glycosuria, and aminoaciduria. " 12/01/1992 - "Since recurrent Fanconi syndrome was seen after transplantation in one patient, anti-TBM antibodies were removed by plasmapheresis prior to kidney transplantation in the other two patients. " 01/01/1995 - "Two mechanisms can produce hypophosphatemia after a renal transplantation: a parathormone excess due to the previous renal failure, that disappears during the first year after the transplantation or a derangement in renal phosphate transport that can be due to a generalized proximal tubule solute transport derangement (Fanconi syndrome), parathormone hypersensitivity or to an "idiopathic" hyperphosphaturia. " Order ALL the reference details at left...

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