Ivacaftor in a young boy with the rare gating mutation S549R--use of lung clearance index to track progress: a case report.

Abstract excerpt

BACKGROUND: Ivacaftor acts as a potentiator of the cystic fibrosis transmembrane conductance regulator (CFTR) and increases the transepithelial chloride transport of CFTR in 9 of 10 known gating mutations causing cystic fibrosis. S549R is a rare gating mutation considered to be less sensitive to potentiators than all other gating mutations. CASE PRESENTATION: We report our first experience with ivacaftor in an...

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