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Role of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in patients with chronic sinopulmonary disease.
MedLine Citation:
PMID:  22423042     Owner:  NLM     Status:  Publisher    
ABSTRACT INTRODUCTION:Previous studies report a high frequency of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients with idiopathic bronchiectasis. However, most studies have based their findings on pre-selected patient groups or have performed limited testing for 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 1995-2005 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 controls, CF heterozygotes and CF patients. 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 CF diagnosis 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 CF subjects from those with CFTR-related or idiopathic disease. CONCLUSION:The high prevalence of CF and CFTR dysfunction among patients with idiopathic chronic sinopulmonary disease underscores the need for extensive diagnostic evaluation for CF.
Tanja Gonska; Perry Choi; Anne Stephenson; Lynda Ellis; Sheelagh Martin; Melinda Solomon; Annie Dupuis; Ruslan Dorfman; Julian Zielenski; Chee Y Ooi; William Weiser; Peter R Durie; Elizabeth Tullis
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-15
Journal Detail:
Title:  Chest     Volume:  -     ISSN:  1931-3543     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-3-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0231335     Medline TA:  Chest     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
(1)Department of Pediatrics, University of Toronto, Toronto, Canada ;
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