Renal failure due to Bardet-Biedl syndrome - A case report
MEDICAL PRINCIPLES AND PRACTICE, cilt.13, sa.6, ss.380-382, 2004 (SCI-Expanded, Scopus)
- 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
- Anahtar Kelimeler: Bardet-Biedl syndrome, renal failure, hemodialysis, INVOLVEMENT
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Karadeniz Teknik 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.