Mutation Type and Intracranial Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease.

ABSTRACT:

Background

Screening for intracranial aneurysms (IAs) in patients with risk factors of IA is recommended. However, genetic risk factors of IA in patients with autosomal dominant polycystic kidney disease (ADPKD) remain unclear, and genotype-phenotype relationships in IAs in patients with ADPKD have not been clarified. Therefore, we aimed to clarify the associations between germline mutations and IA formation in patients with ADPKD.

Methods

A total of 135 patients with ADPKD who were evaluated for ADPKD mutations were examined for IA formation in this single-center observational study.

Results

The incidence of de novo IA formation was 1.3% per patient-year. Age at IA diagnosis was younger in patients with frameshift (median, 36 years; P=0.003) and splicing mutat

SUBMITTER: Kataoka H 

PROVIDER: S-EPMC12778811 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature