Fanconi Syndrome Treatment & Management

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

Medical Care

The treatment of a child with Fanconi syndrome mainly consists of the replacement of substances lost in the urine. Prominent among these substances are fluids and electrolytes.

  • Dehydration due to polyuria must be prevented by allowing free access to water; treat dehydration with either oral or parenteral solutions.
  • Metabolic acidosis due to the loss of bicarbonate is corrected by the administration of alkali, usually 3-10 mg/kg/d of sodium bicarbonate in divided doses.
  • Addition of a diuretic, such as 1-3 mg/kg/d of hydrochlorothiazide, may be necessary to avoid volume expansion, which magnifies the excretion of bicarbonate by lowering the renal threshold. Unfortunately, the diuretic increases potassium wasting and thus the need to augment potassium supplementation in the form of potassium bicarbonate, citrate, or acetate.
  • Correction of metabolic acidosis is beneficial but is not sufficient for the treatment of bone disease. Phosphate and vitamin D supplementation are also necessary.
  • Normalization of serum phosphate levels may be achieved by administering 1-3 g/d of supplemental phosphate. Administration should start at the lower level and be slowly increased over several weeks to minimize GI symptoms.
    • Vitamin D, administered as 1,25-dihydroxyvitamin D3 or 1a-hydroxyvitamin D3, is preferred because liver and/or renal hydroxylation may be impaired in patients with Fanconi syndrome.
    • The losses of glucose, amino acids, and uric acid are not usually symptomatic and do not require replacement. Recently, carnitine supplementation has been tried in an attempt to increase muscle strength; however, results have been mixed.
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Surgical Care

Liver transplantation has been successfully used in patients with liver failure due to Wilson disease or tyrosinemia. Liver transplantation leads to the rapid disappearance of the renal tubular abnormalities.

Kidney transplantation has been performed in many patients with renal failure due to cystinosis. Cystine accumulates in the monocytes and interstitial cells of the transplanted kidney but not in proximal tubule cells. Consequently, the tubular transport abnormalities do not recur.

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Consultations

A slit-lamp eye examination should be requested whenever the diagnosis of cystinosis is suspected. Detection of needle-shaped refractile bodies in the cornea is pathognomonic. In patients with Wilson disease, a slit-lamp examination can be used to detect the pathognomonic Kayser-Fleischer rings. An ophthalmology consultation is also warranted in patients with galactosemia and Lowe syndrome because ocular manifestations can be present.

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Diet

Several forms of Fanconi syndrome are caused by deficiencies in enzymes involved in the metabolism of nutrients, such as galactose, fructose, tyrosine, and phenylalanine. Elimination of these substances from the diet results in the disappearance of the renal manifestations of the syndrome. However, some of the systemic abnormalities, such as developmental delay, growth retardation, speech impairment, and ovarian dysfunction in galactosemia or hepatic cirrhosis in tyrosinemia, do not appear to be affected. Patients with Wilson disease benefit from a low-copper diet and therapy with D-penicillamine.

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Activity

None of the conditions associated with Fanconi syndrome mandate restrictions in activities. However, some of these conditions can result in failure of organs, such as the liver or kidneys, or in diminution of muscle strength, which, in turn, may limit the ability of children to engage in physically demanding activities.

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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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