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Fanconi Syndrome Treatment & Management

  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
 
Updated: Jun 17, 2015
 

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 Associate Professor of 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, American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

Coauthor(s)

Adrian Spitzer, MD Clinical Professor Emeritus, Department of Pediatrics, Albert Einstein College of Medicine

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, Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

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 Association for the Advancement of Science, Eastern Society for Pediatric Research, Renal Physicians Association, American Academy of Pediatrics, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, Federation of American Societies for Experimental Biology, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Sigma Xi, 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, The Ann and Robert H Lurie Children's Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, International Society of Nephrology

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Raptor Pharmaceuticals; Eli Lilly and Company; Dicerna<br/>Received grant/research funds from NIH for none; Received grant/research funds from Raptor Pharmaceuticals, Inc for none; Received grant/research funds from Alexion Pharmaceuticals, Inc. for none; Received consulting fee from DiCerna Pharmaceutical Inc. for none.

Additional Contributors

Deogracias Pena, MD Medical Director of Dialysis, Medical Director of Pediatric Nephrology and Transplantation, Cook Children's Medical Center; Clinical Associate Professor, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Medical Director of Pediatric Nephrology, Florida Hospital for Children

Deogracias Pena, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

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