eMedicine Specialties > Pediatrics: General Medicine > Nephrology

Fanconi Syndrome: Follow-up

Author: Sahar Fathallah-Shaykh, MD, Assistant Professor in Pediatric Nephrology, Northwestern University Feinberg School of Medicine; Consulting Staff, Division of Kidney Diseases, Children's Memorial Hospital
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
Contributor Information and Disclosures

Updated: Jun 30, 2008

Follow-up

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.

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  • Some of the secondary forms of Fanconi syndrome may be limited by preventing exposure to toxins such as lead and outdated tetracyclines and aminoglycosides.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

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.

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.

Miscellaneous

Medicolegal Pitfalls

  • Medicolegal problems may arise because of failure to make an early diagnosis and subsequently recommend the appropriate therapy.
 


More on Fanconi Syndrome

Overview: Fanconi Syndrome
Differential Diagnoses & Workup: Fanconi Syndrome
Treatment & Medication: Fanconi Syndrome
Follow-up: Fanconi Syndrome
References
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References

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Further Reading

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Keywords

Fanconi syndrome, Fanconi's syndrome, primary Fanconi syndrome, inherited Fanconi syndrome, secondary Fanconi syndrome, acquired Fanconi syndrome, idiopathic Fanconi syndrome, nephrotic-glucosuric dwarfism with hypophosphatemic rickets, oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe, Lowe syndrome, Lowe's syndrome, Lowe-Terrey-MacLachlan syndrome, vitamin D–dependent rickets, cystinosis, cystine storage disease, De Toni–Fanconi syndrome, Lignac-Fanconi syndrome, Wilson disease, Wilson's disease, galactosemia, glycogen-storage disease, hypophosphatemia, renal failure

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Contributor Information and Disclosures

Author

Sahar Fathallah-Shaykh, MD, Assistant Professor in Pediatric Nephrology, Northwestern University Feinberg School of Medicine; Consulting Staff, Division of Kidney Diseases, Children's Memorial Hospital
Sahar Fathallah-Shaykh, MD is a member of the following medical societies: American Society of 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.

Medical Editor

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.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

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: Academy of Medical Royal Colleges, American Academy of Pediatrics, American Association for the Advancement of Science, American Heart Association, 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.

CME Editor

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, Feinberg School of Medicine, Northwestern University; Division Head of Kidney Diseases, Children's Memorial Hospital, Chicago
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: Amgen Grant/research funds None; Abbott Honoraria Speaking and teaching; Altus Pharmaceuticals Grant/research funds None; Genzyme Grant/research funds None; Merck Grant/research funds None; NIH Grant/research funds None

 
 
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