title: Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease.
abstract: BACKGROUND
  Previous studies report a high frequency of mutations in the cystic fibrosis (CF) transmembrane conductance regulator gene (CFTR) in patients with idiopathic bronchiectasis. However, most studies have based their findings on preselected patient groups or have performed limited testing for CF transmembrane conductance regulator (CFTR) dysfunction. The objective of our study was to evaluate the prevalence of CFTR gene mutations and/or CFTR-related ion channel abnormalities among subjects with idiopathic chronic sinopulmonary disease and the prevalence of CF or a CFTR-related disorder in this population.
  
  
  METHODS
  We evaluated 72 prospectively enrolled patients from 1995 to 2005 at the Hospital for Sick Children and St. Michael’s Hospital with idiopathic chronic sinopulmonary disease for evidence of CFTR-mediated abnormalities. We performed CFTR genotyping and assessed CFTR function using sweat testing and nasal potential difference testing. The results were compared with data from healthy control subjects, CF heterozygotes, and patients with CF.
  
  
  RESULTS
  The CFTR functional tests in idiopathic sinopulmonary patients showed a continuous spectrum, ranging from normal to values typically seen in individuals with CF. Forty-eight patients (66%) demonstrated CFTR mutations and/or abnormalities of CFTR function. Twenty-two (31%) fulfilled criteria for a diagnosis of CF and 26 (36%) for a CFTR-related disorder with a strong female preponderance. Functional tests, more than genotyping, were instrumental in establishing a CF diagnosis. Clinical features failed to distinguish subjects with CF from those with CFTR-related or idiopathic disease.
  
  
  CONCLUSIONS
  The high prevalence of CF and CFTR dysfunction among patients with idiopathic chronic sinopulmonary disease underscores the need for extensive diagnostic evaluation for CF.
authors.affiliation: Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Physiology and Experimental Medicine, Research Institute and Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Toronto, ON, Canada.
authors.forename: Tanja
authors.initials: T
authors.lastname: Gonska
authors.affiliation: Department of Medical Imaging, St. Michael's Hospital and University of Toronto, Toronto, ON, Canada.
authors.forename: Perry
authors.initials: P
authors.lastname: Choi
authors.affiliation: Department of Medicine, University of Toronto, Toronto, ON, Canada; Division of Respirology and Keenan Research Centre of Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada.
authors.forename: Anne
authors.initials: A
authors.lastname: Stephenson
authors.affiliation: Physiology and Experimental Medicine, Research Institute and Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Toronto, ON, Canada.
authors.forename: Lynda
authors.initials: L
authors.lastname: Ellis
authors.affiliation: Physiology and Experimental Medicine, Research Institute and Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Toronto, ON, Canada.
authors.forename: Sheelagh
authors.initials: S
authors.lastname: Martin
authors.affiliation: Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Department of Pediatrics, Division of Respirology, Biostatistics, Toronto, ON, Canada.
authors.forename: Melinda
authors.initials: M
authors.lastname: Solomon
authors.affiliation: Design and Analysis Unit, Research Operations, Neuroscience, Toronto, ON, Canada.
authors.forename: Annie
authors.initials: A
authors.lastname: Dupuis
authors.affiliation: Mental Health, Research Institute, and Genetics and Genomic Biology, Research Institute, Toronto, ON, Canada.
authors.forename: Ruslan
authors.initials: R
authors.lastname: Dorfman
authors.affiliation: Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Julian
authors.initials: J
authors.lastname: Zielenski
authors.affiliation: School of Women's and Children's Health, Faculty of Medicine, University of New South Wales and Sydney Children's Hospital Randwick, Sydney, NSW, Australia.
authors.forename: Chee Y
authors.initials: CY
authors.lastname: Ooi
authors.affiliation: Department of Medical Imaging, St. Michael's Hospital and University of Toronto, Toronto, ON, Canada.
authors.forename: William
authors.initials: W
authors.lastname: Weiser
authors.affiliation: Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Physiology and Experimental Medicine, Research Institute and Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Toronto, ON, Canada.
authors.forename: Peter R
authors.initials: PR
authors.lastname: Durie
authors.affiliation: Department of Medicine, University of Toronto, Toronto, ON, Canada; Division of Respirology and Keenan Research Centre of Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada. Electronic address: TULLISE@smh.ca.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Tullis
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001987:Bronchiectasis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002908:Chronic Disease; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D017136:Ion Transport / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011446:Prospective Studies; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA