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

Chest
Nicola J RonanBarry J Plant

Abstract

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.

References

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Jun 24, 2011·Clinical and Vaccine Immunology : CVI·Elizabeth Crabb BreenPhilip J Norris
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Oct 1, 2014·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Kris De BoeckMark Higgins

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Citations

Jan 26, 2016·Revue des maladies respiratoires·D HubertA Munck
Sep 23, 2016·Frontiers in Pharmacology·Miquéias Lopes-Pacheco
Sep 17, 2016·Pharmacogenetics and Genomics·Alison E FohnerTeri E Klein
Jan 6, 2017·The European Respiratory Journal·Samuel T MontgomeryUNKNOWN AREST CF
Jul 30, 2019·The Journal of Medicine and Philosophy·Philip M Rosoff
Oct 6, 2017·JCI Insight·Kavisha AroraAnjaparavanda P Naren

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