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Mutations within the CFTR gene are central to the pathophysiology of cystic fibrosis. CFTR encodes a chloride channel that is located primarily on epithelial cell membranes and is responsible for the regulation of transmembrane chloride and other ion transport. Recent studies indicate a potential association between mutation of the CFTR gene and osteoporosis in patients with CF. Dif et al1 reported an abnormal skeletal phenotype in CFTR-null mice with striking osteopenia, reduced cortical width and thinning of the trabeculae, while in a study of adults with CF, the ΔF508 mutation was shown to be an independent risk factor for low bone mineral density.2 An association between CFTR mutations and bone disease might be mediated either indirectly by effects of the mutations on other systems (for example, the endocrine system), or it could be due to abnormally …
Footnotes
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Dr Elizabeth Shead was funded though a clinical scientist training programme supported by the Workforce Development Confederation.
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Competing interests: None declared.