Positive clinical outcomes following ivacaftor treatment in a cystic fibrosis patient with the genotype 3272 –26A  >  G/Q493X

We present a case of sustained improvements in several different clinical domains following ivacaftor treatment in a cystic fibrosis patient with the functional class 5 CFTR mutation 3272 –26A > G and a functional class 1 mutation in compound heterozygosity.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Letter to the Editor Source Type: research