Nina Lenherr and Marco Lurà contributed equally to this work.
The authors declare that they have no competing interests.
NL and ML contributed equally to this article. All authors contributed to this case report and all authors read and approved the final manuscript.
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.
We report our first experience with ivacaftor in an 8-year-old boy with the rare S549R gating mutation. Besides subjective clinical improvements, the sweat chloride level and the lung clearance index decreased impressively within a few weeks of treatment while forced expiratory volume in the first second values remained in normal range.
We emphasize the value of measuring small airway function by lung clearance index as an outcome measure for new interventions targeting the correction of the CFTR defect at an age before traditional lung function parameters start to deteriorate.
Dawson KP, Frossard PM, Al-Awar B. Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T--G). East Mediterr Health J. 2001;7(6):975–80. PubMed
Davies J, Sheridan H, Bell N, Cunningham S, Davis SD, Elborn JS, et al. Assessment of clinical response to ivacaftor with lung clearance index in cystic fibrosis patients with a G551D-CFTR mutation and preserved spirometry: a randomised controlled trial. Lancet Respir Med. 2013;1(8):630–8. CrossRefPubMed
- Ivacaftor in a young boy with the rare gating mutation S549R - use of lung clearance index to track progress: a case report
- BioMed Central
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