Beyond the kidney biopsy: genomic approach to undetermined kidney diseases.

ABSTRACT:

Background

According to data from large national registries, almost 20%-25% of patients with end-stage kidney disease have an undetermined kidney disease (UKD). Recent data have shown that monogenic disease-causing variants are under-diagnosed. We performed exome sequencing (ES) on UKD patients in our center to improve the diagnosis rate.

Methods

ES was proposed in routine practice for patients with UKD including kidney biopsy from January 2019 to December 2021. Mutations were detected using a targeted bioinformatic customized kidney gene panel (675 genes). The pathogenicity was assessed using American College of Medical Genetics guidelines.

Results

We included 230 adult patients, median age 47.5 years. Consanguinity was reported by 25 patients. A family history of ki

SUBMITTER: Robert T 

PROVIDER: S-EPMC10765093 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature