Does retinitis pigmentosa relate with polycystic kidney disease?

Kocyigit I., ÜNAL A., Ozaslan E., OYMAK O., Utas C.

INTERNATIONAL UROLOGY AND NEPHROLOGY, cilt.42, sa.4, ss.1103-1105, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 42 Sayı: 4
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1007/s11255-010-9709-8
  • Dergi Adı: INTERNATIONAL UROLOGY AND NEPHROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1103-1105
  • Erciyes Üniversitesi Adresli: Evet

Özet

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders. A 21-year-old woman presented with temporary visual loss and gross hematuria. Fundoscopy showed retinitis pigmentosa, which was confirmed by electroretinogram. Her serum creatinine concentration was 1.6 mg/dl, and her renal ultrasonography revealed bilateral polycystic kidneys; she was unaware of having this condition. In this patient, there was probably an inherited ciliary defect, which may explain the association of ADPKD and retinitis pigmentosa.