Fanconi Syndrome Workup

  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD   more...
 
Updated: Aug 2, 2011
 

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.
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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.
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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.
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Contributor Information and Disclosures
Author

Sahar Fathallah-Shaykh, MD  Assistant Professor in Pediatric Nephrology, University of Alabama at Birmingham School of Medicine; Consulting Staff, Division of Pediatric Nephrology, Medical Director of Pediatric Dialysis Unit, Children's of Alabama

Sahar Fathallah-Shaykh, MD is a member of the following medical societies: American Society of Nephrology and American Society of Pediatric 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.

Specialty Editor Board

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.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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: American Academy of Pediatrics, American Association for the Advancement of Science, 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.

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, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, Children's Memorial Hospital

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: Merck Grant/research funds None; NIH Grant/research funds None; Raptor Pharmaceuticals, Inc Grant/research funds None; Alexion Pharmaceuticals, Inc. Grant/research funds None

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