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Role of CFTR mutations in adult bronchiectasis
  1. P T King1,2,
  2. N J Freezer1,
  3. P W Holmes1,
  4. S R Holdsworth2,
  5. K Forshaw3,
  6. D D Sart3
  1. 1Department of Respiratory Medicine, Monash Medical Centre, Melbourne, Australia
  2. 2Monash University Department of Medicine, Monash Medical Centre, Melbourne, Australia
  3. 3Murdoch Children’s Research Institute, Melbourne, Australia
  1. Correspondence to:
    Dr P T King
    Department of Respiratory Medicine, Monash Medical Centre, 246 Clayton Road, Clayton, Melbourne, Victoria 3168, Australia; ptkingnetspace.net.au

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Over 1000 different mutations of the cystic fibrosis transmembrane conduction regulator (CFTR) gene have so far been identified. These mutations have been associated with a spectrum of clinical phenotypes ranging from classic cystic fibrosis (CF) presenting in early childhood to CFTR related conditions that may present in adulthood such as congenital bilateral absence of the vas deferens, chronic pancreatitis, and rhinosinusitis. In addition, the 5T variant in the polythimidine tract is felt to be important in atypical CF as it significantly reduces the amount of normal CFTR transcript because intron 8 is inefficiently spliced.1

Bronchiectasis in adults is most commonly idiopathic2 and is a significant cause of chronic morbidity. The chief manifestation of CF is bronchiectasis, and the role of CFTR mutations in adult bronchiectasis is still not well defined. Several small studies have suggested that there is an increased prevalence of CFTR mutations in diffuse adult …

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