Cystic fibrosis: review of the decade.

The median estimated life expectancy of children with cystic fibrosis (CF) born in 1990 is 40 years which represents a doubling in the last 20 years, and nearly half of all patients are now adults. Since the identification of the gene, more than 1000 gene mutations have been discovered. This gene encodes for the cystic fibrosis transmembrane conductance regulator (CFTR), a protein that is thought to have a role in ion transport, mucus rheology, inflammation and bacterial adherence. Various therapeutic mechanisms are currently being investigated in an attempt to overcome these abnormalities. Recombinant human DNase is beneficial in many patients and the use of anti-inflammatory agents such as steroids, ibuprofen and macrolides have potential. Despite these advances in treatment it is essential that these patients are diagnosed early. Whilst the case for neonatal screening is not absolutely conclusive the evidence is highly suggestive that it would be beneficial. It may be that, in the future, new treatments such as gene therapy will be more effective in those patients who have not yet developed lung disease. Whilst gene therapy and other new treatments such as bilateral living lobar lung donation give our patients optimism for the future it is important to remember that the increase in survival is a result of good physiotherapy, nutrition, aggressive antibiotic use and an increase in our understanding of the disease. It is important that patients continue to be referred early to tertiary CF centres.