Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.

ABSTRACT:

Introduction

The cause of kidney failure (KF) often remains undetermined despite extensive diagnostic efforts. Given that genetic kidney diseases are underdiagnosed, we conducted a cross-sectional study to investigate the prevalence in patients with KF of undetermined etiology (uKF) using multifaceted genetic screening.

Methods

One hundred twenty-four patients with uKF by age ≤ 50 years previously underwent single-nucleotide polymorphism (SNP)-array and MUC1 analysis. Of these, 114 remained without a genetic diagnosis and underwent whole-genome sequencing (WGS) in 3 consecutive stages as follows: (i) proband-based gene panel analysis; (ii) family-based analysis; and (iii) cohort-based reanalysis, including mitochondrial genome screening.

Results

The median age

SUBMITTER: Granhoj J 

PROVIDER: S-EPMC12640074 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature