Fanconi Syndrome Follow-up

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

Further Outpatient Care

  • 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

  • Some of the secondary forms of Fanconi syndrome may be limited by preventing exposure to toxins such as lead and outdated tetracyclines and aminoglycosides.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  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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