Cystic Fibrosis (CF) is an autosomal recessive disease caused by genetic mutations on chromosome 7. The defective gene results in abnormalities in the production and function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In healthy cells CFTR acts as a chloride channel and a regulator of sodium, chloride and bicarbonate transport. The resulting reduction or absence of CFTR expression in patients with CF results in impaired chloride transport, enhanced sodium absorption, dehydration of airway surface liquid, and deficiency in mucociliary clearance. Viscid secretions develop in the lung as well as in the liver, bowel, and pancreas. These changes result is a multisystem disease that includes progressive bronchiectasis, pancreatic insufficiency, liver disease, and CF-related diabetes. The diagnosis is often suspected in infancy due to bowel complications, such as meconium ileus, recurrent chest infections, or failure to thrive. In the UK there is a national screening programme using the standard heel prick test to measure immunoreactive trypsinogen (IRT). The diagnosis is confirmed by performing sweat tests and CF genetics. Median survival has improved to 40 years due to a multidisciplinary approach with regards to nutrition, airway clearance, and antibiotic therapy. Over recent years there have been several important advances in the development of drugs that directly treat the basic defect.
KeywordsCystic fibrosis Cystic fibrosis transmembrane conductance regulator CFTR Sweat test Bronchiectasis
- 1.Elborn JS, Bell SC, Madge SL, Burgel PR, Castellani C, Conway S, et al. Report of the European Respiratory Society/European Cystic Fibrosis Society task force on the care of adults with cystic fibrosis. Eur Respir J. 2015;47(2):420–8. https://doi.org/10.1183/13993003.00592-2015. PubMed PMID: 264536.CrossRefPubMedGoogle Scholar
- 3.Green A, Isherwood D, Pollitt R. A laboratory guide to newborn screening in the UK for cystic fibrosis. 4th ed. London: UK National Screening Committee; 2014.Google Scholar
- 4.Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153(2):S4–S14. PubMed PMID: 18639722. Pubmed Central PMCID: PMC2810958.CrossRefPubMedPubMedCentralGoogle Scholar
- 11.Nolan SJ, Thornton J, Murray CS, Dwyer T. Inhaled mannitol for cystic fibrosis. Cochrane Database Syst Rev. 2015;10:CD008649. PubMed PMID: 26451533.Google Scholar
- 13.Koloušková S, Zemková D, Bartošová J, Skalická V, Šumník Z, Vávrová V, et al. Low-dose insulin therapy in patients with cystic fibrosis and early-stage insulinopenia prevents deterioration of lung function: a 3-year prospective study. J Pediatr Endocrinol Metab. 2011;24(7–8):449–54. PubMed PMID: 21932580. English.PubMedGoogle Scholar