PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.

ABSTRACT:

Background

Autosomal dominant polycystic kidney disease (ADPKD) occurs in 1 in 500-4000 people worldwide. Genetic mutation is a biomarker for predicting renal dysfunction in patients with ADPKD. In this study, we performed a genetic analysis of Japanese patients with ADPKD to investigate the prognostic utility of genetic mutations in predicting renal function outcomes.

Methods

Patients clinically diagnosed with ADPKD underwent a panel genetic test for germline mutations in PKD1 and PKD2. This study was conducted with the approval of the Ethics Committee of Juntendo University (no. 2019107).

Results

Of 436 patients, 366 (83.9%) had genetic mutations. Notably, patients with PKD1 mutation had a significantly decreased ΔeGFR/year compared to patients

SUBMITTER: Kimura T 

PROVIDER: S-EPMC10377076 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature