eMedicine Specialties > Pediatrics: General Medicine > Nephrology

Fanconi Syndrome: Differential Diagnoses & Workup

Author: Sahar Fathallah-Shaykh, MD, Assistant Professor in Pediatric Nephrology, Northwestern University Feinberg School of Medicine; Consulting Staff, Division of Kidney Diseases, Children's Memorial Hospital
Coauthor(s): Adrian Spitzer, MD, Professor, Department of Pediatrics, Albert Einstein College of Medicine; Director of NIH Training Program, Children's Hospital at Montefiore Medical Center
Contributor Information and Disclosures

Updated: Jun 30, 2008

Differential Diagnoses

Other Problems to Be Considered

Differential diagnoses for the various forms of Fanconi syndrome are based on the patient's history and the presence of specific extrarenal manifestations. For instance, a history of pica is suggestive of lead intoxication, whereas the administration of gentamicin or of an anticancer drug, such as cisplatin or ifosfamide, is indicative of toxic injury of the renal tubule.

The age at which the child becomes symptomatic can provide a diagnostic clue. Some conditions such as fructose intolerance or galactosemia may become evident during the first few days of life if the infant is exposed to the noxious nutrient. Symptoms of nephropathic cystinosis become apparent in children older than 6 months; symptoms of Wilson disease usually appear in persons older than 10 years.

Workup

Laboratory Studies

  • 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. More elaborate tests are designed to determine the renal threshold for these substances (ie, the concentration in the blood at which these substances appear in the urine) or their fractional reabsorption (ie, the percentage of the filtered load that is reabsorbed by the renal tubule). The results are compared with normal levels for age. Recently, an increased urinary lactate-to-creatinine ratio has been postulated as a sensitive test for disordered proximal tubular function.
  • The choice of tests designed to determine the cause of the syndrome should be based on information obtained by means of the history or physical examination. When toxic agents such as drugs or heavy metals are suspected, measure their levels in the blood or urine. When cystinosis appears to be the cause, measure the cellular concentrations of cystine in fibroblasts or leucocytes. Enzymatic defects can be ascertained by measuring tissue levels.

Imaging Studies

  • Imaging studies do not play an important role in the diagnosis or follow-up of patients with Fanconi syndrome. Rarely, a patient may come to the attention of the physician because of rickets, a consequence of mineral losses in the urine and disturbances in vitamin D metabolism.

Histologic Findings

  • Most patients with Fanconi syndrome have no distinguishing features of renal morphology.
  • A distortion in the appearance of the proximal tubule, which resembles a swan neck, was described in children with cystinosis and was considered to be the cause of the syndrome. However, this distortion is more likely to be consequence of cellular atrophy secondary to the deposition of cystine.
  • Nonspecific glomerular and tubular changes are also described in Lowe syndrome.

More on Fanconi Syndrome

Overview: Fanconi Syndrome
Differential Diagnoses & Workup: Fanconi Syndrome
Treatment & Medication: Fanconi Syndrome
Follow-up: Fanconi Syndrome
References
[ CLOSE WINDOW ]

References

  1. Kapitsinou PP, Ansari N. Acute renal failure in an AIDS patient on tenofovir: a case report. J Med Case Reports. Mar 31 2008;2:94. [Medline].

  2. Nitisinone: new drug. Type 1 tyrosinemia: an effective drug. Prescrire Int. Apr 2007;16(88):56-8. [Medline].

  3. Baum M. The cellular basis of Fanconi syndrome. Hosp Pract (Off Ed). Nov 15 1993;28(11):137-42, 147-8. [Medline].

  4. Bickel H, Manz F. Hereditary tubular disorders of the Fanconi type and the idiopathic Fanconi syndrome. Prog Clin Biol Res. 1989;305:111-35. [Medline].

  5. Blachley JD, Hill JB. Renal and electrolyte disturbances associated with cisplatin. Ann Intern Med. Nov 1981;95(5):628-32. [Medline].

  6. Brewer GJ. Practical recommendations and new therapies for Wilson's disease. Drugs. Aug 1995;50(2):240-9. [Medline].

  7. Chan JS, Yang AH, Kao KP, et al. Acquired fanconi syndrome induced by mixed Chinese herbs presenting as proximal muscle weakness. J Chin Med Assoc. Apr 2004;67(4):193-6. [Medline].

  8. Eiam-Ong S, Laski ME, Kurtzman NA. Diseases of renal adenosine triphosphatase. Am J Med Sci. Jan 1995;309(1):13-25. [Medline].

  9. Haffner D, Weinfurth A, Seidel C, et al. Body growth in primary de Toni-Debre-Fanconi syndrome. Pediatr Nephrol. Feb 1997;11(1):40-5. [Medline].

  10. Kapitsinou PP, Ansari N. Acute renal failure in an AIDS patient on tenofovir: a case report. J Med Case Reports. Mar 31 2008;2:94. [Medline].

  11. Kleta R, Bernardini I, Ueda M, et al. Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr. Oct 2004;145(4):555-60. [Medline].

  12. Knorr M, Schaper J, Harjes M, et al. Fanconi syndrome caused by antiepileptic therapy with valproic Acid. Epilepsia. 2004;45(7):868-71. [Medline].

  13. Levtchenko EN, van Dael CM, de Graaf-Hess AC, et al. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol. 2005;Epub ahead of print:[Medline].

  14. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group. Nat Genet. Jun 1995;10(2):246-8. [Medline].

  15. Malekzadeh MH, Neustein HB, Schneider JA, et al. Cadaver renal transplantation in children with cystinosis. Am J Med. Oct 1977;63(4):525-33. [Medline].

  16. Markello TC, Bernardini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med. Apr 22 1993;328(16):1157-62. [Medline].

  17. Melnick JZ, Baum M, Thompson JR. Aminoglycoside-induced Fanconi's syndrome. Am J Kidney Dis. Jan 1994;23(1):118-22. [Medline].

  18. Moxey-Mims M, Stapleton FB. Renal tubular disorders in the neonate. Clin Perinatol. Mar 1992;19(1):159-78. [Medline].

  19. Mujais SK. Maleic acid-induced proximal tubulopathy: Na:K pump inhibition. J Am Soc Nephrol. Aug 1993;4(2):142-7. [Medline].

  20. Niaudet P, Rötig A. Renal involvement in mitochondrial cytopathies. Pediatr Nephrol. Jun 1996;10(3):368-73. [Medline].

  21. Palestine AG, Austin HA 3rd, Nussenblatt RB. Renal tubular function in cyclosporine-treated patients. Am J Med. Sep 1986;81(3):419-24. [Medline].

  22. Quimby D, Brito MO. Fanconi syndrome associated with use of tenofovir in HIV-infected patients: a case report and review of the literature. AIDS Read. Jul 2005;15(7):357-64. [Medline].

  23. Riva S, Ghisalberti C, Parini R, et al. The Fanconi-Bickel syndrome: a case of neonatal onset. J Perinatol. May 2004;24(5):322-3. [Medline].

  24. Santer R, Steinmann B, Schaub J. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. Curr Mol Med. Mar 2002;2(2):213-27. [Medline].

  25. Schneider JA, Clark KF, Greene AA, et al. Recent advances in the treatment of cystinosis. J Inherit Metab Dis. 1995;18(4):387-97. [Medline].

  26. Shoemaker LR, Strife CF, Balistreri WF, et al. Rapid improvement in the renal tubular dysfunction associated with tyrosinemia following hepatic replacement. Pediatrics. Feb 1992;89(2):251-5. [Medline].

  27. Thirumurugan A, Thewles A, Gilbert RD, et al. Urinary L-lactate excretion is increased in renal Fanconi syndrome. Nephrol Dial Transplant. Jul 2004;19(7):1767-73. [Medline].

  28. Thoene JG. Cystinosis. J Inherit Metab Dis. 1995;18(4):380-6. [Medline].

  29. Town M, Jean G, Cherqui S, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. Apr 1998;18(4):319-24. [Medline].

  30. Watanabe T, Yoshikawa H, Yamazaki S, et al. Secondary renal Fanconi syndrome caused by valproate therapy. Pediatr Nephrol. Jun 2005;20(6):814-7. [Medline].

  31. Wilmer MJ, de Graaf-Hess A, Blom HJ, et al. Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells. Biochem Biophys Res Commun. Nov 18 2005;337(2):610-4. [Medline].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

Fanconi syndrome, Fanconi's syndrome, primary Fanconi syndrome, inherited Fanconi syndrome, secondary Fanconi syndrome, acquired Fanconi syndrome, idiopathic Fanconi syndrome, nephrotic-glucosuric dwarfism with hypophosphatemic rickets, oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe, Lowe syndrome, Lowe's syndrome, Lowe-Terrey-MacLachlan syndrome, vitamin D–dependent rickets, cystinosis, cystine storage disease, De Toni–Fanconi syndrome, Lignac-Fanconi syndrome, Wilson disease, Wilson's disease, galactosemia, glycogen-storage disease, hypophosphatemia, renal failure

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Sahar Fathallah-Shaykh, MD, Assistant Professor in Pediatric Nephrology, Northwestern University Feinberg School of Medicine; Consulting Staff, Division of Kidney Diseases, Children's Memorial Hospital
Sahar Fathallah-Shaykh, MD is a member of the following medical societies: American Society of Nephrology
Disclosure: emedecine Honoraria Other

Coauthor(s)

Adrian Spitzer, MD, Professor, Department of Pediatrics, Albert Einstein College of Medicine; Director of NIH Training Program, Children's Hospital at Montefiore Medical Center
Adrian Spitzer, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Medical Research, American Pediatric Society, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

Deogracias Pena, MD, Medical Director of Dialysis, Department of Pediatrics, Cook Children's Medical Center; Clinical Associate Professor, Texas Tech University School of Medicine
Deogracias Pena, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, and American Society of Pediatric Nephrology
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Frederick J Kaskel, MD, PhD, Director of the Division and Training Program in Pediatric Nephrology, Vice Chair, Department of Pediatrics, Montefiore Medical Center and Albert Einstein School of Medicine
Frederick J Kaskel, MD, PhD is a member of the following medical societies: Academy of Medical Royal Colleges, American Academy of Pediatrics, American Association for the Advancement of Science, American Heart Association, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, Eastern Society for Pediatric Research, Federation of American Societies for Experimental Biology, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Renal Physicians Association, Sigma Xi, and Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Howard Trachtman, MD, Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine
Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD, The Isaac A Abt, MD, Professor of Kidney Diseases, Feinberg School of Medicine, Northwestern University; Division Head of Kidney Diseases, Children's Memorial Hospital, Chicago
Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, and International Society of Nephrology
Disclosure: Amgen Grant/research funds None; Abbott Honoraria Speaking and teaching; Altus Pharmaceuticals Grant/research funds None; Genzyme Grant/research funds None; Merck Grant/research funds None; NIH Grant/research funds None

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.