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Case Reports
. 2012 Jan-Feb;19(1):46-8.
doi: 10.1155/2012/546702.

Cystic fibrosis transmembrane conductance regulator gene abnormalities in patients with asthma and recurrent neutrophilic bronchitis

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Case Reports

Cystic fibrosis transmembrane conductance regulator gene abnormalities in patients with asthma and recurrent neutrophilic bronchitis

Jodi Goodwin et al. Can Respir J. 2012 Jan-Feb.

Abstract

The present case series describes four patients with asthma, airway hyperresponsiveness and neutrophilic bronchitis who harboured abnormal cystic fibrosis transmembrance conductance regulator (CFTR) gene mutations. It serves both to alert clinicians to consider CFTR-related disease in both young and elderly patients with persistent neutrophilic bronchitis, and to highlight the potential utility of future genetic testing for CFTR abnormalities in patients with asthma and recurrent bronchitis or pansinusitis, and the role of nebulized hypertonic saline as a therapeutic option in these patients.

La présente série de cas décrit quatre patients atteints d’asthme, d’hypersensibilité des voies aériennes et de bronchite à neutrophiles qui présentaient des mutations anormales du gène régulateur de la perméabilité transmembranaire de la fibrose kystique (CFTR). Elle permet à la fois de signaler aux cliniciens d’envisager une maladie liée au gène CFTR chez les patients ayant une bronchite à neutrophiles persistante et à souligner l’utilité potentielle de futurs tests génétiques des anomalies du gène CFTR chez les patients ayant de l’asthme et une bronchite récurrente ou une pansinusite ainsi que le rôle des solutés physiologiques hypertoniques en aérosol comme solution thérapeutique chez ces patients.

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Comment in

  • The role of CFTR mutations in asthma.
    Sandford A. Sandford A. Can Respir J. 2012 Jan-Feb;19(1):44-5. doi: 10.1155/2012/267251. Can Respir J. 2012. PMID: 22332134 Free PMC article. No abstract available.

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