Screening for genetic kidney diseases in a dialysis cohort via exome sequencing.

ABSTRACT:

Background

Monogenic causes are increasingly recognized in end-stage kidney disease (ESKD), but the real-world diagnostic efficacy of exome sequencing in unselected dialysis cohorts is still being defined.

Methods

We conducted a prospective study enrolling 317 adult ESKD patients from a single center in Taiyuan, China, regardless of presumed etiology. Whole-exome sequencing (WES) was performed on peripheral blood DNA. Variants were curated and classified per the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) 2015 and Association for Clinical Genomic Science (ACGS) guidelines, with only "pathogenic" or "likely pathogenic" findings considered diagnostic.

Results

The cohort was 59% male, mean ESKD onset 53.2 ± 14.3 years.

SUBMITTER: Liu ZY 

PROVIDER: S-EPMC12916740 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature