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Fanconi Syndrome Medication

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

Medication Summary

The medications required to correct abnormalities due to the renal loss of various substances are listed in Medical Care. In this section, the use of drugs designed to correct the causes of the syndrome are addressed. These drugs are confined to only 2 of the conditions associated with Fanconi syndrome, cystinosis, and Wilson disease.


Cystine-lowering Agents

Class Summary

Numerous compounds have been found to decrease the levels of cystine in cultured cells, but only a few were proven effective in clinical trials. Prominent among the effective drugs is cysteamine, which has been shown to decrease the tissue levels of cystine, delay the progression of renal disease, and improve linear growth, particularly when treatment is started in children younger than 2 years. However, no effect on the Fanconi syndrome was documented. Cysteamine bitartrate (Procysbi), a delayed-release formula that can be given every 12 hours, is approved by the US Food and Drug Administration (FDA) for management of nephropathic cystinosis in children aged 6 years and older and adults. A randomized controlled crossover trial showed the delayed-release product was safe and effective in reducing WBC cystine levels in patients with cystinosis.[10]

Cysteamine bitartrate (Procysbi)


Cysteamine bitartrate is used off-label to reduce cystine levels, potentially delaying kidney and other damage associated with Fanconi syndrome. The delayed-release product is used in the management of nephropathic cystinosis, a rare genetic condition, in adults and children aged 6 years or older. It was granted an orphan product designation.


Chelating agents

Class Summary

These agents inhibit a toxin by reacting with it to form less active or inactive complex.

D-penicillamine (Cuprimine, Depen)


Recommended for removal of excess copper in patients with Wilson disease. In vitro, 1 atom of copper combines with 2 molecules of penicillamine; 1 g of penicillamine is expected to cause excretion of approximately 200 mg of copper. In practice, however, only about 1% of this amount excreted. Determine dosage by measurements of urinary copper excretion and free copper in the serum.

Trientine hydrochloride (Syprine)


Use in patients who are intolerant to penicillamine. Clinical experience limited. Unlike penicillamine, does not contain a sulfhydryl group, making it unable to chelate cystine; therefore, use only to treat Wilson disease. Administer on empty stomach and swallow capsules whole with water.


Tyrosine Degradation Inhibitor

Class Summary

In addition to dietary treatment, some advise the use of NTBC, which is a highly potent inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase. NTBC prevents formation of fumarylacetoacetate from tyrosine. Results from an international study initiated in 1992 resulted in US Food and Drug Administration (FDA) approval in January 2002.

An open-label study of 207 patients (aged from birth to 21.7 y, median age 9 mo) revealed an improved overall survival rate compared with historical control subjects (29% vs 88% survival probabilities at 4 y) when patients who were younger than 2 months presented with hereditary tyrosinemia type I and were treated with nitisinone and dietary restriction.[11]

Nitisinone (Orfadin)


Used adjunctively to dietary restrictions to treat hereditary tyrosinemia type-1. Highly potent reversible inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase. Prevents formation of fumarylacetoacetate from tyrosine.

Contributor Information and Disclosures

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.


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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