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

ULUSOY S., KAYNAR K., GUL S., Ukinc K.

MEDICAL PRINCIPLES AND PRACTICE, cilt.13, sa.6, ss.380-382, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 6
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1159/000080479
  • Dergi Adı: MEDICAL PRINCIPLES AND PRACTICE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.380-382
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Evet

Özet

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.