The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.

ABSTRACT:

Background

Genomic disorders caused by copy number variations (CNVs) are prevalent in patients with kidney disease; however, their contribution to chronic kidney failure (KF) of undetermined aetiology (uKF) is unclear. We screened patients with uKF aged 50 years or younger to establish the prevalence of causative CNVs.

Methods

We enrolled patients with an onset of KF ≤50 years from suspected undetermined aetiology for initial review of medical records to exclude patients with clear-cut clinical or histopathological kidney diagnoses or patients with already established genetic kidney diseases. Next, we performed single nucleotide polymorphism (SNP) array-based CNV screening. All the detected CNVs were systematically classified and evaluated as possible causes of the patient's

SUBMITTER: Granhoj J 

PROVIDER: S-EPMC11252669 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature