title: Cystic fibrosis transmembrane conductance regulator gene abnormalities in patients with asthma and recurrent neutrophilic bronchitis.
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.
authors.affiliation: Firestone Institute for Respiratory Health, St Joseph's Healthcare and Department of Medicine, McMaster University, Hamilton, Ontario.
authors.forename: Jodi
authors.initials: J
authors.lastname: Goodwin
authors.forename: Naomi
authors.initials: N
authors.lastname: Spitale
authors.forename: Asma
authors.initials: A
authors.lastname: Yaghi
authors.forename: Myrna
authors.initials: M
authors.lastname: Dolovich
authors.forename: Parameswaran
authors.initials: P
authors.lastname: Nair
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000368:Aged; D000369:Aged, 80 and over; D001249:Asthma / Q000188:drug therapy / Q000235:genetics*; D016535:Bronchial Hyperreactivity / Q000235:genetics; D001991:Bronchitis / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009330:Nebulizers and Vaporizers; D009504:Neutrophils; D012965:Sodium Chloride / Q000627:therapeutic use
chemical_list: D000305:Adrenal Cortex Hormones; C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D012965:Sodium Chloride