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Improved Clinical and Radiographic Outcomes After Treatment With Ivacaftor in a Young Adult With Cystic Fibrosis With the P67L CFTR MutationImproved Outcome With Ivacaftor in P67L Cystic Fibrosis

Shatha Yousef, MD; George M. Solomon, MD; Alan Brody, MD; Steven M. Rowe, MD, MSPH; Andrew A. Colin, MD
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From the Division of Pediatric Pulmonology (Drs Yousef and Colin), Miller School of Medicine, University of Miami, Miami, FL; the Department of Medicine (Drs Solomon and Rowe), University of Alabama at Birmingham, Birmingham, AL; and the Departments of Radiology and Pediatrics (Dr Brody), Cincinnati Children’s Hospital and the University of Cincinnati College of Medicine, Cincinnati, OH.

CORRESPONDENCE TO: Steven M. Rowe, MD, MSPH, 1918 University Blvd, MCLM 706, Birmingham, AL 35294-0006; e-mail: smrowe@uab.edu


Drs Yousef and Solomon contributed equally to this manuscript.

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


Chest. 2015;147(3):e79-e82. doi:10.1378/chest.14-1198
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The underlying cause of cystic fibrosis (CF) is the loss of epithelial chloride and bicarbonate transport due to mutations in the CF transmembrane conductance regulator (CFTR) gene encoding the CFTR protein. Ivacaftor is a gene-specific CFTR potentiator that augments in vivo chloride transport in CFTR mutations affecting channel gating. Originally approved for the G511D CFTR mutation, ivacaftor is now approved for eight additional alleles exhibiting gating defects and has also been tested in R117H, a CFTR mutation with residual function that exhibits abnormal gating. P67L is a class 4 conductance (nongating) mutation exhibiting residual CFTR function. We report marked clinical improvement, normalization of spirometry, and dramatic reduction in radiographic structural airway changes after > 1 year of treatment with ivacaftor in a young adult with the compound heterozygous genotype P67L/F508del CFTR. The case suggests that ivacaftor may have a potential benefit for patients with CF with nongating mutations.

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