Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease.

ABSTRACT:

Background

Identifying genetic mutations in individuals with inherited cystic kidney disease is necessary for precise treatment. We aimed to elucidate the genetic characteristics of cystic kidney disease in the Korean population.

Methods

We conducted a 3-year prospective, multicenter cohort study at eight hospitals from May 2019 to May 2022. Patients with more than three renal cysts were enrolled and classified into two categories, typical autosomal dominant polycystic kidney disease (ADPKD) and atypical PKD. We identified the clinical characteristics and performed a genetic analysis using a targeted gene panel.

Results

A total of 725 adult patients were included in the study, of which 560 (77.2%) were diagnosed with typical ADPKD and 165 (22.8%) had atypical PKD. Amo

SUBMITTER: Cho JM 

PROVIDER: S-EPMC10565461 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature