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The Role of Ivacaftor in Severe Cystic Fibrosis in a Patient With the R117H MutationIvacaftor in Severe CF With R117H Mutation

Nicola J. Ronan, MBBCh; Claire Fleming, BSc; Grace O’Callaghan, PhD; Michael M. Maher, MBBCh, MD; Desmond M. Murphy, MBBCh, PhD, FCCP; Barry J. Plant, MBBCh, MD
Author and Funding Information

From the Cork Adult Cystic Fibrosis Centre (Drs Ronan, O’Callaghan, Murphy, and Plant and Ms Fleming), and the Department of Radiology (Dr Maher), University College Cork, Cork University Hospital, Wilton; and the Health Research Board Clinical Research Facility (Drs Ronan, O’Callaghan, Murphy, and Plant), University College Cork, Cork, Ireland.

CORRESPONDENCE TO: Barry J. Plant, MBBCh, MD, Cork Adult Cystic Fibrosis Centre, University College Cork, Cork University Hospital, Wilton, Cork, Ireland; e-mail: b.plant@ucc.ie


Reproduction of this article is prohibited without written permission from the American College of Chest Physicians. See online for more details.


Chest. 2015;148(3):e72-e75. doi:10.1378/chest.14-3215
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Cystic fibrosis (CF) conductance transmembrane regulator functions as a chloride (Cl) channel in multiple organs, including the lungs. More than 1,800 disease-associated mutations have been identified, which can be divided into six classes. In patients with CF due to class III gating mutations, ivacaftor produces significant improvement in lung function, weight, reduction in sweat chloride level, and pulmonary exacerbations by enhancing the probability of chloride channel opening (gating). Although the benefit of ivacaftor in CF due to gating mutations is established, its potential role in patients with CF due to class IV conductance mutations is emerging. We report 6 months’ prospective stability of lung function, improved BMI, reduced pulmonary exacerbations, and reduction in sweat chloride level in a patient with severe CF and the class IV R117H mutation. High-resolution CT scan also improved, thus highlighting the potential usefulness of ivacaftor in patients with severe CF due to class IV mutations.

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