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


Creative Commons License

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

MEDICAL PRINCIPLES AND PRACTICE, vol.13, no.6, pp.380-382, 2004 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 6
  • Publication Date: 2004
  • Doi Number: 10.1159/000080479
  • Journal Name: MEDICAL PRINCIPLES AND PRACTICE
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • 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.