fanconi syndrome

Summary

Summary: 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.

Top Publications

  1. Rifkin B, Perazella M. Tenofovir-associated nephrotoxicity: Fanconi syndrome and renal failure. Am J Med. 2004;117:282-4 pubmed
  2. Mathew G, Knaus S. Acquired Fanconi's syndrome associated with tenofovir therapy. J Gen Intern Med. 2006;21:C3-5 pubmed
    ..Frequent urine, renal, and electrolyte parameters should be measured at regular intervals following initiation of tenofovir therapy...
  3. Izzedine H, Launay Vacher V, Isnard Bagnis C, Deray G. Drug-induced Fanconi's syndrome. Am J Kidney Dis. 2003;41:292-309 pubmed
    ..Acquired renal tubular defects resulting in FS also have been described in association with many exogenous agents, whether administered or accidentally ingested. This review concentrates on drug-induced FS...
  4. Duck L, Devogelaer J, Persu A, Berliere M, Caussin E, Baurain J, et al. Osteomalacia due to chemotherapy-induced Fanconi syndrome in an adult patient. Gynecol Oncol. 2005;98:329-31 pubmed
    Chemotherapy-induced Fanconi syndrome is a dangerous condition that could lead to severe electrolyte disturbances and rarely to osteomalacia.
  5. Quimby D, Brito M. Fanconi syndrome associated with use of tenofovir in HIV-infected patients: a case report and review of the literature. AIDS Read. 2005;15:357-64 pubmed
    We report a case of Fanconi syndrome associated with the use of tenofovir disoproxil fumarate, a nucleotide reverse transcriptase inhibitor used in the treatment of HIV infection...
  6. Parsonage M, Wilkins E, Snowden N, Issa B, Savage M. The development of hypophosphataemic osteomalacia with myopathy in two patients with HIV infection receiving tenofovir therapy. HIV Med. 2005;6:341-6 pubmed
    ..developed in patients on tenofovir-containing highly active antiretroviral therapy (HAART) in the context of Fanconi syndrome with hypophosphataemia. Bone pain was the presenting feature and myopathy followed in one case...
  7. Lichter Konecki U, Broman K, Blau E, Konecki D. Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. Am J Hum Genet. 2001;68:264-8 pubmed
    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...
  8. Appenroth D, Werner T, Lupp A, Patzer L, Misselwitz J, Fleck C. Efforts to establish an animal model of Fanconi syndrome after ifosfamide administration to rats. J Appl Toxicol. 2007;27:327-36 pubmed
    About 10% of children develop Fanconi syndrome (FS) a few months after ifosfamide (IFO) treatment...
  9. Fine D. Editorial comment: Fanconi syndrome and tenofovir--understanding proximal tubular function. AIDS Read. 2007;17:326-7 pubmed

More Information

Publications62

  1. Rafat C, Fakhouri F, Ribeil J, Delarue R, Le Quintrec M. Fanconi syndrome due to deferasirox. Am J Kidney Dis. 2009;54:931-4 pubmed publisher
    ..We report a case of Fanconi syndrome associated with acute renal insufficiency in a patient receiving deferasirox...
  2. Grangé S, Bertrand D, Guerrot D, Eas F, Godin M. Acute renal failure and Fanconi syndrome due to deferasirox. Nephrol Dial Transplant. 2010;25:2376-8 pubmed publisher
    ..However, recent data from large studies confirmed the renal toxicity of deferasirox. We report a case of Fanconi syndrome associated with acute renal failure in a patient receiving deferasirox...
  3. Wei H, Yang C, Cheng C, Lo F. Fanconi syndrome in a patient with ?-thalassemia major after using deferasirox for 27 months. Transfusion. 2011;51:949-54 pubmed publisher
    ..Its advantages are that it is convenient and better tolerated and adhered to due to "once-daily" oral dosage. However, its use in the field is limited and it is yet to be subjected to postmarketing surveillance...
  4. Hong Y, Fu L, Chung L, Hung S, Huang Y, Chi C. Fanconi's syndrome, interstitial fibrosis and renal failure by aristolochic acid in Chinese herbs. Pediatr Nephrol. 2006;21:577-9 pubmed
    ..AAN was diagnosed after other etiologies had been excluded. The case demonstrates the hazards of Chinese herbs with regard to children's health in Taiwan and suggests that more attention should be paid to this issue...
  5. Irizarry Alvarado J, Dwyer J, Brumble L, Alvarez S, Mendez J. Proximal tubular dysfunction associated with tenofovir and didanosine causing Fanconi syndrome and diabetes insipidus: a report of 3 cases. AIDS Read. 2009;19:114-21 pubmed
    We report 3 cases of patients with HIV/AIDS in whom Fanconi syndrome and nephrogenic diabetes insipidus developed secondary to use of an antiretroviral regimen containing tenofovir disoproxil fumarate and didanosine...
  6. Laube G, Haq M, Van t Hoff W. Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome. Pediatr Nephrol. 2005;20:136-40 pubmed
    The renal Fanconi syndrome (FS) is characterised by generalised proximal tubular dysfunction...
  7. Hostutler R, DiBartola S, Eaton K. Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. J Am Vet Med Assoc. 2004;224:1611-4, 1605 pubmed
    ..These laboratory abnormalities were diagnostic of proximal renal tubular acidosis and Fanconi syndrome. Results of initial and convalescent serologic tests for leptospirosis were negative...
  8. Gahl W, Bernardini I, Dalakas M, Rizzo W, Harper G, Hoeg J, et al. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. J Clin Invest. 1988;81:549-60 pubmed
    ..with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome. After treatment with oral L-carnitine, 100 mg/kg per d divided every 6 h, plasma carnitine concentrations ..
  9. Sun M, Hattori S, Kubo S, Awata H, Matsuda I, Endo F. 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. J Am Soc Nephrol. 2000;11:291-300 pubmed
    ..Simultaneously, renal tubular function was impaired and Fanconi syndrome occurred...
  10. Cutillas P, Norden A, Cramer R, Burlingame A, Unwin R. Detection and analysis of urinary peptides by on-line liquid chromatography and mass spectrometry: application to patients with renal Fanconi syndrome. Clin Sci (Lond). 2003;104:483-90 pubmed
    ..This approach is a potentially powerful tool to discover new markers and/or causative factors in renal disease; in addition, its sensitivity may also make it applicable to the direct ultramicroanalysis of renal tubule fluid...
  11. Badary O. L-Histidinol attenuates Fanconi syndrome induced by ifosfamide in rats. Exp Nephrol. 1999;7:323-7 pubmed
    ..The aim of this study was to assess whether oral supplementation of LHL could attenuate Fanconi syndrome (FS) induced by IFO...
  12. Yoshikawa H, Watanabe T, Abe T. Fanconi syndrome caused by sodium valproate: report of three severely disabled children. Eur J Paediatr Neurol. 2002;6:165-7 pubmed
    ..treated with sodium valproate from the age of 2 months, 3 months and 7 years, respectively, and who developed Fanconi syndrome. All three patients were bed-ridden and fed by means of a nasogastric or gastrostomy tube...
  13. Long W, Seashore M, Siegel N, Bia M. Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion. Yale J Biol Med. 1990;63:15-28 pubmed
    b>Fanconi syndrome is a complex of renal tubular dysfunctions defined by glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis...
  14. Pitchon E, Cachat F, Jacquemont S, Hinard C, Borruat F, Schorderet D, et al. Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA). Klin Monbl Augenheilkd. 2007;224:340-3 pubmed
    ..We report a patient with a highly unusual presentation of a mitochondrial disorder...
  15. Norden A, Lapsley M, Igarashi T, Kelleher C, Lee P, Matsuyama T, et al. Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome. J Am Soc Nephrol. 2002;13:125-33 pubmed
    ..are present in the urine of patients with Dent's disease, Lowe's syndrome, or autosomal dominant idiopathic Fanconi syndrome was explored. They are all forms of the renal Fanconi syndrome and are associated with tubular proteinuria...
  16. Lino M, Binaut R, Noel L, Patey N, Rustin P, Daniel L, et al. Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosis. Am J Kidney Dis. 2005;46:e41-6 pubmed
    ..Tubulointerstitial nephritis and Fanconi syndrome have been reported more rarely...
  17. Cetinkaya I, Schlatter E, Hirsch J, Herter P, Harms E, Kleta R. Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis. J Am Soc Nephrol. 2002;13:2085-93 pubmed
    Cystinosis is the most common cause of the renal Fanconi syndrome in children, leading to severe electrolyte disturbances and growth failure. A defective lysosomal transporter, cystinosin, results in intralysosomal accumulation of cystine...
  18. Malik A, Abraham P, Malik N. Acute renal failure and Fanconi syndrome in an AIDS patient on tenofovir treatment--case report and review of literature. J Infect. 2005;51:E61-5 pubmed
    ..We report another patient who developed Fanconi syndrome while on tenofovir. Her condition improved on discontinuation of the drug...
  19. Berio A, Piazzi A. Kearns-Sayre syndrome associated with de Toni-Debré-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency. Panminerva Med. 2001;43:211-4 pubmed
    ..the renal tubule: first hyperphosphaturia and hyperaminoaciduria and, later, also glucosuria (de Toni-Debré-Fanconi syndrome), a syndrome to date rarely diagnosed in association with complete Kearns-Sayre syndrome...
  20. Sehirli O, Sakarcan A, Velioglu Ogunc A, Cetinel S, Gedik N, Yegen B, et al. Resveratrol improves ifosfamide-induced Fanconi syndrome in rats. Toxicol Appl Pharmacol. 2007;222:33-41 pubmed
    ..The results demonstrated that IFO induced a Fanconi syndrome characterized by increased urinary sodium, phosphate, glucose and protein, along with increased serum ..
  21. Gilbert R, Emms M. Pearson's syndrome presenting with Fanconi syndrome. Ultrastruct Pathol. 1996;20:473-5 pubmed
    ..The dominant clinical feature was a generalized disorder of proximal tubule function with severe renal magnesium wasting. Renal and muscle biopsies were performed and showed bizarre giant mitochondria...
  22. Ahmad M. Abacavir-induced reversible Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired immunodeficiency syndrome. J Postgrad Med. 2006;52:296-7 pubmed
    There are several reports of Fanconi syndrome (FS) with or without nephrogenic diabetes insipidus (NDI) in patients with human immunodeficiency virus (HIV) infection, treated with various antiretroviral medications like cidofovir, ..
  23. Gupta S. Tenofovir-associated Fanconi syndrome: review of the FDA adverse event reporting system. AIDS Patient Care STDS. 2008;22:99-103 pubmed publisher
    ..A relatively uncommon adverse effect of this drug is Fanconi syndrome. What is known about this toxicity, especially in regards to concomitant medication use and outcomes, is ..
  24. Ma C, Lacy M, Rompala J, Dispenzieri A, Rajkumar S, Greipp P, et al. Acquired Fanconi syndrome is an indolent disorder in the absence of overt multiple myeloma. Blood. 2004;104:40-2 pubmed
    Adult-acquired Fanconi syndrome (FS) is a rare complication of monoclonal gammopathy. We retrospectively reviewed 32 patients diagnosed with adult-acquired FS between April 1968 and June 2002 at Mayo Clinic (Rochester, MN)...
  25. Terrier B, Fakhouri F, Berezne A, Bouldouyre M, Guilpain P, Sogni P, et al. Osteomalacia revealing celiac disease and primary biliary cirrhosis-related Fanconi syndrome in a patient with systemic sclerosis. Clin Exp Rheumatol. 2008;26:467-70 pubmed
    ..exceptional conditions in the setting of SSc: celiac disease (CD) and primary biliary cirrhosis (PBC)-related Fanconi syndrome. Oral prednisone with angiotensin-converting enzyme inhibitors, was initiated because of active lesions of ..
  26. Pontoglio M, Barra J, Hadchouel M, Doyen A, Kress C, Bach J, et al. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell. 1996;84:575-85 pubmed
    ..Mutant mice also suffer from severe Fanconi syndrome caused by renal proximal tubular dysfunction...
  27. Levtchenko E, Monnens L. Development of Fanconi syndrome during infancy in a patient with cystinosis. Acta Paediatr. 2006;95:379-80 pubmed
  28. Koike K, Lida S, Usui M, Matsumoto Y, Fukami K, Ueda S, et al. Adult-onset acute tubulointerstitial nephritis and uveitis with Fanconi syndrome. Case report and review of the literature. Clin Nephrol. 2007;67:255-9 pubmed
    We report a case of tubulointerstitial nephritis and uveitis (TINU syndrome) with full type Fanconi syndrome. A 32-year-old woman presented with fatigue, anorexia and weight loss...
  29. Gahl W, Balog J, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med. 2007;147:242-50 pubmed
    ..The full burden of nephropathic cystinosis in adulthood and the effects of long-term oral cysteamine therapy on its nonrenal complications have not been elucidated...
  30. Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2008;23:863-78 pubmed
    ..prominent feature of cystinosis and, along with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, has accounted for the bulk of deaths from this disorder...
  31. Shaikh A, Wiisanen M, Gunderson H, Leung N. Acquired Fanconi syndrome after treatment with capecitabine, irinotecan, and bevacizumab. Ann Pharmacother. 2009;43:1370-3 pubmed publisher
    To describe a case of acquired Fanconi syndrome after treatment with capecitabine, irinotecan, and bevacizumab.
  32. Pook M, Wrong O, Wooding C, Norden A, Feest T, Thakker R. Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. Hum Mol Genet. 1993;2:2129-34 pubmed
    ..22, and a further characterisation of this gene will help to elucidate the factors controlling proximal renal tubular function and the development of kidney stones...
  33. Liamis G, Bairaktari E, Elisaf M. Hypokalemia due to Fanconi syndrome in a patient with obstructive jaundice. Nephron. 2002;92:711-2 pubmed
  34. Verhelst D, Monge M, Meynard J, Fouqueray B, Mougenot B, Girard P, et al. Fanconi syndrome and renal failure induced by tenofovir: a first case report. Am J Kidney Dis. 2002;40:1331-3 pubmed
    ..The authors report the case of a patient who had Fanconi syndrome, nephrogenic diabetes insipidus, and acute renal failure during treatment with tenofovir, a nucleotide ..
  35. Sirac C, Bridoux F, Essig M, Devuyst O, Touchard G, Cogne M. Toward understanding renal Fanconi syndrome: step by step advances through experimental models. Contrib Nephrol. 2011;169:247-61 pubmed publisher
    Renal Fanconi syndrome (FS) is a generalized dysfunction of proximal tubular epithelial cells leading to the urinary leak of essential metabolites like phosphate, uric acid, glucose, amino acids and low molecular weight proteins...
  36. Gaspar G, Monereo A, Garcia Reyne A, de Guzmán M. Fanconi syndrome and acute renal failure in a patient treated with tenofovir: a call for caution. AIDS. 2004;18:351-2 pubmed
  37. Earle K, Seneviratne T, Shaker J, Shoback D. Fanconi's syndrome in HIV+ adults: report of three cases and literature review. J Bone Miner Res. 2004;19:714-21 pubmed
    ..This was temporally related to their HIV treatment. Physicians caring for patients with HIV should recognize the association of this rare syndrome with antiretroviral medications and monitor their patients carefully...
  38. Hsiao P, Wang S, Wen M, Diang L, Lin S. Fanconi syndrome and CKD in a patient with paroxysmal nocturnal hemoglobinuria and hemosiderosis. Am J Kidney Dis. 2010;55:e1-5 pubmed publisher
    b>Fanconi syndrome and chronic kidney disease associated with paroxysmal nocturnal hemoglobinuria is rarely reported...
  39. Yildiz B, Durmus Aydogdu S, Kural N, Bildirici K, Basmak H, Yarar C. A patient with cystinosis presenting transient features of Bartter syndrome. Turk J Pediatr. 2006;48:260-2 pubmed
    ..Renal Fanconi syndrome with metabolic acidosis is prominent in cystinosis; however, in rare instances, if sodium-dependent trans-..
  40. Endo A, Fujita Y, Fuchigami T, Takahashi S, Mugishima H. Fanconi syndrome caused by valproic acid. Pediatr Neurol. 2010;42:287-90 pubmed publisher
    ..girl, had been treated with valproic acid from the ages of 5 and 6 months, respectively, and developed Fanconi syndrome. Both patients were bedridden and fed by means of a nasogastric or gastrostomy tube...
  41. Drube J, Schiffer E, Mischak H, Kemper M, Neuhaus T, Pape L, et al. Urinary proteome pattern in children with renal Fanconi syndrome. Nephrol Dial Transplant. 2009;24:2161-9 pubmed publisher
    The renal Fanconi syndrome (FS) is characterized by renal glucosuria, loss of electrolytes, bicarbonate and lactate, generalized hyperaminoaciduria and low-molecular-weight proteinuria...
  42. Golachowska M, van Dael C, Keuning H, Karrenbeld A, Hoekstra D, Gijsbers C, et al. MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. J Pediatr Gastroenterol Nutr. 2012;54:491-8 pubmed publisher
    ..We report 2 patients with MVID that developed renal Fanconi syndrome while receiving total parenteral nutrition...
  43. Vilasi A, Cutillas P, Maher A, Zirah S, Capasso G, Norden A, et al. Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome. Am J Physiol Renal Physiol. 2007;293:F456-67 pubmed
    The renal Fanconi syndrome is a defect of proximal tubular function causing aminoaciduria and low-molecular-weight proteinuria...
  44. Buysschaert M, Cosyns J, Barreto L, Jadoul M. Pamidronate-induced tubulointerstitial nephritis with Fanconi syndrome in a patient with primary hyperparathyroidism. Nephrol Dial Transplant. 2003;18:826-9 pubmed
  45. Ghiculescu R, Kubler P. Aminoglycoside-associated Fanconi syndrome. Am J Kidney Dis. 2006;48:e89-93 pubmed
    The objective is to describe a case of probable aminoglycoside-induced Fanconi syndrome and make clinicians aware of the existence of this underrecognized and underdiagnosed complication in patients treated with a prolonged course of high-..
  46. Norden A, Lapsley M, Lee P, Pusey C, Scheinman S, Tam F, et al. Glomerular protein sieving and implications for renal failure in Fanconi syndrome. Kidney Int. 2001;60:1885-92 pubmed
    ..We have studied the proteinuria of Fanconi syndrome, a "knock-out" of renal tubular protein reabsorption, to estimate GSCs and detect potential ..
  47. Watanabe T, Yoshikawa H, Yamazaki S, Abe Y, Abe T. Secondary renal Fanconi syndrome caused by valproate therapy. Pediatr Nephrol. 2005;20:814-7 pubmed
    Although renal Fanconi syndrome resulting from valproate (VPA) has occasionally been reported, the detailed clinical characteristics of this disease remain unclear...
  48. Cutillas P, Chalkley R, Hansen K, Cramer R, Norden A, Waterfield M, et al. The urinary proteome in Fanconi syndrome implies specificity in the reabsorption of proteins by renal proximal tubule cells. Am J Physiol Renal Physiol. 2004;287:F353-64 pubmed
    ..completely reabsorbed in the first segment of the proximal tubule by receptor-mediated endocytosis; in renal Fanconi syndrome (FS), there is failure to reabsorb many of these polypeptides...
  49. D Ythurbide G, Goujard C, Méchaï F, Blanc A, Charpentier B, Snanoudj R. Fanconi syndrome and nephrogenic diabetes insipidus associated with didanosine therapy in HIV infection: a case report and literature review. Nephrol Dial Transplant. 2007;22:3656-9 pubmed
  50. Izzedine H, Launay Vacher V, Deray G. Fanconi syndrome associated with didanosine therapy. AIDS. 2005;19:844-5 pubmed
  51. Wang C, Shiang J, Huang W, Lin S. Hypokalemic paralysis as primary presentation of Fanconi syndrome associated with Sjögren syndrome. J Clin Rheumatol. 2010;16:178-80 pubmed publisher
    Hypokalemic paralysis is a rare presentation of Fanconi syndrome (FS) caused by Sjögren Syndrome (SS). We describe a 39-year-old man who manifested flaccid paralysis of 4 limbs. Laboratory investigations showed profound hypokalemia (1...
  52. Rogowska E, Wozniak W. [Nephrotoxicity of ifosfamide with special reference to Fanconi Syndrome]. Med Wieku Rozwoj. 2004;8:289-95 pubmed
    The article is a case presentation of Fanconi syndrome in a patient treated with high doses of ifosfamide. ifosfamide nephrotoxicity relates to glomerular and tubular disfunction...
  53. Karras A, Lafaurie M, Furco A, Bourgarit A, Droz D, Sereni D, et al. Tenofovir-related nephrotoxicity in human immunodeficiency virus-infected patients: three cases of renal failure, Fanconi syndrome, and nephrogenic diabetes insipidus. Clin Infect Dis. 2003;36:1070-3 pubmed
    ..Patients receiving tenofovir must be monitored closely for early signs of tubulopathy (glycosuria, acidosis, mild increase in the plasma creatinine level, and proteinuria)...