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Fanconi Syndrome Follow-up

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

Further Outpatient Care

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  • Closely monitor all patients with Fanconi syndrome, independent of etiology or pathogenesis. Frequency of the patient's visits depends on various factors, including the severity of the syndrome, the ability to maintain fluid and electrolyte balance, the degree of involvement of other organs, and the need for monitoring the effects and side effects of specific medications.
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Deterrence/Prevention

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  • Some of the secondary forms of Fanconi syndrome may be limited by preventing exposure to toxins such as lead and outdated tetracyclines and aminoglycosides. Eliminating lactose from the diet in children with galactosemia and tyrosine/phenylalanine from the diet in children with tyrosinemia helps alleviate the symptoms in some of the primary forms of Fanconi syndrome.
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Prognosis

Prognosis varies and depends on the cause of the syndrome and the severity of the renal and extrarenal manifestations. As a general rule, the acquired forms of Fanconi syndrome are limited in time and in consequences. The inherited forms are difficult to manage, are usually associated with disturbances in growth, and are involved with specific organs.

  • Cystinosis may result in chronic renal failure, visual impairment, hypothyroidism, progressive neurologic disorders, and generalized myopathy. However, patients with nephropathic cystinosis who have been well-treated with cysteamine have an excellent clinical outcome, illustrating the critical importance of early diagnosis and treatment.
  • Galactosemia, even when galactose is eliminated early from the diet, results in developmental delays, speech impairment, and ovarian dysfunction.
  • Tyrosinemia leads to chronic liver failure and the development of hepatomas. Liver transplantation has been successfully performed in such cases.
  • Wilson disease, when not diagnosed and treated early, may result in neurologic and psychiatric disorders, chronic active hepatitis, and acute hemolytic crises. Liver transplantation has been successfully performed in patients with hepatic failure.
  • Congenital cataracts or glaucoma, mental retardation, hypotonia, and kidney abnormalities that can lead to chronic renal failure and end-stage renal disease in adulthood characterize Lowe syndrome.
  • Idiopathic Fanconi syndrome may result in chronic renal failure during adolescence or adulthood.
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Patient Education

All parents should receive counseling on prevention of lead exposure and avoidance of outdated antibiotics as part of routine well-child care.

  • Parents of children with the primary forms of Fanconi syndrome should receive genetic counseling to explain the patterns of inheritance and advise on the risks of recurrence of the syndromes in subsequent pregnancies.
  • Parents of children with Fanconi syndrome secondary to galactosemia or tyrosinemia should receive detailed dietary instructions to eliminate the specific untolerated nutrients from the diet.
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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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