Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

ABSTRACT:

Background

The utility of whole-exome sequencing (WES) for the diagnosis and management of adult-onset constitutional disorders has not been adequately studied. Genetic diagnostics may be advantageous in adults with chronic kidney disease (CKD), in whom the cause of kidney failure often remains unknown.

Objective

To study the diagnostic utility of WES in a selected referral population of adults with CKD.

Design

Observational cohort.

Setting

A major academic medical center.

Patients

92 adults with CKD of unknown cause or familial nephropathy or hypertension.

Measurements

The diagnostic yield of WES and its potential effect on clinical management.

Results

Whole-exome sequencing provided a diagnosis in 22 of 92 patients (24%), including 9 prob

SUBMITTER: Lata S 

PROVIDER: S-EPMC5947852 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature