Role of CFTR mutations in adult bronchiectasis

Several small studies have suggested that there is an increased prevalence of CFTR mutations in diffuse adult bronchiectasis, 3- 5 and one large study found that there was a marginally higher prevalence of mutations in adult bronchiectasis. 6 Most of these studies have had little information on the...

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Bibliographic Details
Published in:Thorax 2004-04, Vol.59 (4), p.357-358
Main Authors: King, P T, Freezer, N J, Holmes, P W, Holdsworth, S R, Forshaw, K, Sart, D D
Format: Article
Language:English
Subjects:
Adults
Airway management
bronchiectasis
Bronchiectasis - genetics
Cohort Studies
Confidence intervals
Cystic fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
cystic fibrosis transmembrane conduction regulator (CFTR) gene
Female
Genes
Humans
Letter to the Editor
Male
Middle Aged
Mutation
Mutation - genetics
Population
Streptococcus infections
Studies
Citations: Items that cite this one
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Summary:Several small studies have suggested that there is an increased prevalence of CFTR mutations in diffuse adult bronchiectasis, 3- 5 and one large study found that there was a marginally higher prevalence of mutations in adult bronchiectasis. 6 Most of these studies have had little information on the patients' clinical status and family history of disease and have not assessed the 5T mutation. 9, 10 The expected level of heterozygotes in this group which had been screened for 82% of mutations was 3-4 subjects. [...]in this group of subjects with bronchiectasis the number of carriers was the same as would be predicted in a normal population (95% confidence intervals (CI) 1.1 to 9.9).
ISSN:0040-6376
1468-3296
DOI:10.1136/thx.2003.020263