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Normalization of Sweat Chloride Concentration and Clinical Improvement With Ivacaftor in a Patient With Cystic Fibrosis With Mutation S549NIn Vivo Response of S549N to Ivacaftor

Meghan E. McGarry, MD; Dennis W. Nielson, MD, PhD
Author and Funding Information

From the Department of Pediatrics, University of California, San Francisco, San Francisco, CA.

Correspondence to: Dennis W. Nielson, MD, PhD, Department of Pediatrics, University of California, San Francisco, 521 Parnassus Ave, San Francisco, CA 94143-0632; e-mail: nielsond@peds.ucsf.edu


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


Chest. 2013;144(4):1376-1378. doi:10.1378/chest.13-0239
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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.

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