Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.

ABSTRACT:

Introduction

Genetic etiologies are estimated to account for a large portion of chronic kidney diseases (CKD) in children. However, data are lacking regarding the true prevalence of monogenic etiologies stemming from an unselected population screen of children with advanced CKD.

Methods

We conducted a national multicenter prospective study of all Israeli pediatric dialysis units to provide comprehensive "real-world" evidence for the genetic basis of childhood kidney failure in Israel. We performed exome sequencing and assessed the genetic diagnostic yield.

Results

Between 2019 and 2022, we recruited approximately 88% (n = 79) of the children on dialysis from all 6 Israeli pediatric dialysis units. We identified genetic etiologies in 36 of 79 (45%) participants.

SUBMITTER: Ben-Moshe Y 

PROVIDER: S-EPMC10577315 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature