Rate of Lung Function Decline in People with Cystic Fibrosis Having a Residual Function Gene Mutation.

ABSTRACT:

Introduction

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Approximately 5% of people with CF have residual function (RF) CFTR mutations that result in partially retained CFTR activity. Published literature on disease trajectory among those with RF mutations is limited. In this retrospective study, we characterized lung function decline across different age groups in CFTR modulator-untreated people with CF heterozygous for F508del and an RF mutation (F/RF).

Methods

Rate of decline in percent predicted forced expiratory volume in 1 s (ppFEV₁) was analyzed using data from the US CF Foundation Patient Registry (2006-2014) in F/RF (all), F/RF (excluding R117H), and F508del homozygo

SUBMITTER: Sawicki GS 

PROVIDER: S-EPMC9727051 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature