Lung function decline is delayed but not decreased in patients with cystic fibrosis and the R117H gene mutation.

ABSTRACT:

Background

Patients with cystic fibrosis (CF) experience variable lung disease phenotypes. The R117H mutation is often associated with preserved lung function. Our objective was to compare the rate of lung function decline in patients with the R117H mutation and patients homozygous for the F508del mutation.

Methods

Rate of decline in percentage-of-predicted FEV₁ (ppFEV₁) was analyzed using the 2006-2010 US CF Foundation Patient Registry.

Results

4-year rate of decline was slower in 156 R117H patients compared with 6251 F508del patients (-0.61 vs -2.03 ppFEV₁/year, P<0.001). Rates of decline in children were slower in R117H vs F508del patients (6-12-year-olds: +0.73 vs -1.91 ppFEV₁/year, P<0.001 and 13-17-year-olds: -1.55 vs

SUBMITTER: Wagener JS 

PROVIDER: S-EPMC6547371 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature