Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population

SEZGİN İ., KAYATAŞ M., KÜÇÜK KURTULGAN H., YILDIRIM M. E., BAŞER B., TİMÜÇİN M., ...Daha Fazla

TURKISH JOURNAL OF NEPHROLOGY, cilt.29, sa.4, ss.304-309, 2020 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5152/turkjnephrol.2020.4300
  • Dergi Adı: TURKISH JOURNAL OF NEPHROLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.304-309
  • Sivas Cumhuriyet Üniversitesi Adresli: Evet

Özet

Objective: Autosomal dominant polycystic kidney disease (ADPKD), one of the most common causes of end-stage renal disease, is a monogenic, multisystemic disease characterized by renal cysts and various extrarenal findings. ADPKD is caused by mutations in the polycystic kidney disease 1 (PKD1) (16p13.3) and PKD2 (4q22.1) genes. The genetic analysis of the PKD1 gene is complex because of its large size, the presence of 6 pseudogenes, and allelic heterogeneity. In this study, we aimed to identify the mutations of the PKD1 gene in patients with ADPKD in Sivas, Turkey.