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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: 527 relevant articles (12 outcomes, 36 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Cystinosis
2.	Renal Tubular Acidosis (Distal Renal Tubular Acidosis)
3.	Disease Progression
4.	Osteomalacia
5.	Glycosuria

Experts

1.	Gahl, William A: 7 articles (06/2015 - 12/2003)
2.	Levtchenko, Elena N: 6 articles (01/2015 - 11/2005)
3.	Norden, Anthony G W: 6 articles (02/2012 - 01/2002)
4.	Kleta, Robert: 6 articles (02/2011 - 08/2002)
5.	Unwin, Robert J: 6 articles (08/2007 - 01/2002)
6.	van den Heuvel, Lambertus P: 5 articles (09/2013 - 11/2005)
7.	Cutillas, Pedro R: 5 articles (02/2012 - 05/2003)
8.	Watanabe, Toru: 5 articles (06/2005 - 01/2002)
9.	Sarwal, Minnie M: 4 articles (03/2015 - 01/2010)
10.	Sansanwal, Poonam: 4 articles (03/2015 - 01/2010)

Drugs and Biologics

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

1.	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. "
2.	Cystine (L-Cystine)IBA 12/01/1987 - "These studies indicate that cystine dimethylester can induce an experimental form of the Fanconi syndrome both in vivo and in vitro and offers a new model for investigating the mechanisms underlying this enigmatic disorder." 06/01/2011 - "However, cystine depletion does not arrest the disease nor cures Fanconi syndrome in patients, indicating involvement of other yet unknown pathologic pathways. " 05/01/2005 - "CTNS encodes the lysosomal cystine transporter, mutations in which manifest as a range of disorders and are the most common cause of inherited renal Fanconi syndrome. " 04/01/2005 - "After the pediatricians found characteristics of Fanconi syndrome, an ophthalmic consultation was requested Ocular examination revealed typical cystine crystals deposited in the cornea and conjunctivae. " 11/01/2004 - "CTNS codes for the lysosomal cystine transporter, whose absence leads to intracellular cystine accumulation, widespread cellular destruction, renal Fanconi syndrome in infancy, renal glomerular failure in later childhood, and other systemic complications. "
3.	Cysteamine (Mercaptamine)FDA Link 01/01/2011 - "This observation is compatible with the persistence of renal Fanconi syndrome in vivo under cysteamine therapy. " 12/01/2003 - "All patients had Fanconi syndrome and were treated with cysteamine. " 12/01/2010 - "It causes renal Fanconi syndrome and end stage renal failure around the age of 10 years if not treated with cysteamine. " 05/01/2002 - "Urinary cysteamine loss was studied in 6 cystinosis patients with and without Fanconi syndrome and was less than I% of ingested dose in all patients." 05/01/2002 - "We examined whether cysteamine could be lost in the urine of cystinosis patients with Fanconi syndrome, which may explain the inefficiency of treatment. "
4.	Uric Acid (Urate)IBA 09/01/2002 - "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. " 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). " 10/01/1981 - "A 32-year-old woman of Fanconi syndrome with disorders of amino acid, glucose, uric acid and phosphate reabsorption system in proximal tubule and of renal acid excretion mechanism in distal tubule was reported. "
5.	CalciumIBA 11/01/2013 - "Acquired Fanconi syndrome can be associated with ADV at a conventional dosage, and therefore, patients treated with long-term ADV should have regular monitoring of renal function and calcium and phosphate levels. " 06/01/1958 - "[Transitory change of amino-aciduria during calcium perfusion in Toni-Debré-Fanconi syndrome]." 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?" 08/01/1995 - "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. "
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."
7.	Carnitine (L-Carnitine)FDA LinkGeneric 07/01/2011 - "This study aimed to investigate, on a mechanism basis, whether L-carnitine could prevent the development of IFO-induced Fanconi syndrome in rats. " 05/01/1990 - "Patients on haemodialysis treatment will lose carnitine in the dialysis fluid, whereas excessive urinary losses of free and acetylated carnitine occur in the Fanconi syndrome. " 02/01/1988 - "Because oral L-carnitine corrects plasma carnitine deficiency, lowers plasma free fatty acid concentrations, and reverses muscle lipid accumulation in some patients, its use as therapy in renal Fanconi syndrome should be considered. " 02/01/1987 - "We concluded that the lowering of plasma carnitine in the patients with Fanconi syndrome was caused by excessive loss of carnitine in urine. " 02/01/1987 - "In the patients with Fanconi syndrome, mean FTR of free and acyl carnitine was low; their plasma carnitine levels were lowered and correlated with the FTR. "
8.	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. "
9.	Ifosfamide FDA LinkGeneric 01/01/2012 - "It is well documented that ifosfamide (IFO) therapy is associated with sever nephropathy in the form of Fanconi syndrome. " 01/01/2011 - "Ifosfamide induced Fanconi syndrome." 12/01/2010 - "Reversible proximal renal tubular dysfunction after one-time Ifosfamide exposure." 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. "
10.	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]." 12/01/2014 - "Acquired Fanconi syndrome is characterized by inappropriate urinary loss of amino acids, bicarbonate, electrolytes, and water. " 09/01/2012 - "Multiple renal tubular dysfunction or Fanconi syndrome is characterized by alterations in the reabsorption of glucose, amino acids, phosphate and often also bicarbonate. " 04/01/2006 - "Fanconi syndrome is a renal dysfunction characterized by various combinations of renal tubular transport dysfunction involving amino acids, glucose, protein and other substances. "

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 01/01/2011 - "Recent studies have improved our understanding of the underlying pathomechanism of IFA induced Fanconi syndrome, and selective renal protection against during chemotherapy with IFA may be possible soon." 04/01/2004 - "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 - "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."
2.	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."
3.	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 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). " 02/20/2009 - "Adefovir dipivoxil-induced acute tubular necrosis and Fanconi syndrome in a renal transplant patient." 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."
4.	Aftercare (After-Treatment) 08/01/1993 - "Both acute renal failure and Fanconi syndrome resolved after treatment with prednisone." 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 - "To describe a case of acquired Fanconi syndrome after treatment with capecitabine, irinotecan, and bevacizumab. " 07/01/2009 - "Acquired Fanconi syndrome after treatment with capecitabine, irinotecan, and bevacizumab." 11/01/1988 - "Three patients developed a Fanconi syndrome with impairment of glomerular function (endogenous creatinine clearance 30-60 ml/min per 1.73 m2) during and/or after treatment with ifosfamide according to the SIOP-MMT 84 protocol in which ifosfamide was given in a dose of 3000 mg/m2 every 4 weeks over a 10-month period. "
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. "