Article
Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
Medicina (Kaunas, Lithuania) - 16 Nov 2022
Alzahrani Othman R, Alatwi Hanan E, Alharbi Amnah A, Alessa Abdulrahman H, Al-Amer Osama M, Alanazi Abeer F R, Shams Anwar M, Alomari Esra'a, Naser Abdallah Y, Alzahrani Faisal A, Hosawi Salman, Alghamdi Saeed M, Abdali Wed A, Elfaki Imadeldin, Hawsawi Yousef M
Abstract excerpt
Background: Autosomal dominant polycystic kidney disease (ADPKD) is a condition usually caused by a single gene mutation and manifested by both renal and extrarenal features, eventually leading to end-stage renal disease (ESRD) by the median age of 60 years worldwide. Approximately 89% of ADPKD patients had either PKD1 or PKD2 gene mutations. The majority (85%) of the mutations are in the PKD1 gene, especially in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.