The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.

ABSTRACT:

Background

Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal monogenic disease, characterized by bilateral accumulation of renal fluid-filled cysts leading to progressive renal volume enlargement and gradual impairment of kidney function, often resulting in end-stage renal disease. Kuwait could provide valuable genetic insights about ADPKD, including intrafamilial phenotypic variation, given its large household size. This study aims to provide a comprehensive description of the pathogenic variants linked to ADPKD in the Kuwaiti population using multiple genetic analysis modalities and to describe and analyse the ADPKD phenotypic spectrum in terms of kidney function, kidney volume and renal survival.

Methods

A total of 126 ADPKD patients from 11 mu

SUBMITTER: Ali H 

PROVIDER: S-EPMC9900584 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature