Multicenter Surveillance of Cystic Fibrosis in Korean Children.

ABSTRACT:

Purpose

Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is rare among non-Caucasians. We aimed to identify the clinical features and CFTR mutations in Korean children.

Methods

We included 18 pediatric patients with CF diagnosed using sweat chloride test or genetic analysis for 30 years. HEK293 cells were transfected with wild-type CFTR, ΔF508-CFTR, and L441P-CFTR mutant plasmids for 24 hours and treated with CFTR correctors (VX809 and VX661).

Results

The median age at diagnosis was 9.2 years. Eleven patients had growth retardation, and 6 had a respiratory failure at diagnosis. Genetic analysis was used for all patients, while sweat testing was for 8 patients. At diagno

SUBMITTER: Kim HY 

PROVIDER: S-EPMC9523417 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature