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Chest. 2013 Oct;144(4):e1-e4. doi: 10.1378/chest.13-0239.

Normalization of sweat chloride concentration and clinical improvement with ivacaftor in a patient with cystic fibrosis with mutation S549N.

Author information

1
Department of Pediatrics, University of California, San Francisco, San Francisco, CA.
2
Department of Pediatrics, University of California, San Francisco, San Francisco, CA. Electronic address: nielsond@peds.ucsf.edu.

Abstract

The cystic fibrosis (CF) protein forms an anion channel in epithelial cells, and the absence or defective function of this channel results in the clinical manifestations of CF. CF is an autosomal recessive disorder, and its many disease-causing mutations divide into five or six classes. There are 10 known class 3 gating mutations, the most common of which is G551D. Ivacaftor is a drug that in vitro increases open time and transepithelial chloride transport in all 10 gating mutations, but it is approved for use only in patients with the G551D mutation. We report complete normalization of sweat chloride concentration and rapid clinical improvement over 6 weeks of treatment with ivacaftor in a patient with CF with the gating mutation S549N. The findings suggest that ivacaftor should be considered for use in patients with any of the known gating mutations.

PMID:
24081349
PMCID:
PMC4502741
DOI:
10.1378/chest.13-0239
[Indexed for MEDLINE]
Free PMC Article

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