Renal failure due to Bardet-Biedl syndrome - A case report


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Ulusoy S. , KAYNAR K. , GUL S. , UKINC K.

MEDICAL PRINCIPLES AND PRACTICE, vol.13, no.6, pp.380-382, 2004 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 6
  • Publication Date: 2004
  • Doi Number: 10.1159/000080479
  • Title of Journal : MEDICAL PRINCIPLES AND PRACTICE
  • Page Numbers: pp.380-382
  • Keywords: Bardet-Biedl syndrome, renal failure, hemodialysis, INVOLVEMENT

Abstract

Objective: To describe a case of Bardet-Biedl syndrome involving renal failure and retinal dystrophy. Case Presentation and Intervention: A 50-year-old female patient presented to the emergency service with uremic symptoms and metabolic acidosis. Polydactyly, retinitis pigmentosa, obesity, strabismus, nistagmus and renal failure were found. Because she had end-stage renal failure, hemodialysis therapy was started. She has been well for 18 months, without any complication on hemodialysis. Conclusion: Bardet-Biedl syndrome should be considered in patients with polydactyly, retinitis pigmentosa and renal failure. Copyright (C) 2004 S. Karger AG, Basel.