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Paediatric Pulmonology and Allergology
2008 October, Vol. XI, No. 2 (3988-3994)
UPDATE IN CF PATHOPHYSIOLOGY AND PROGRESS WITH NOVEL THERAPIES
Jane Davies
Honorary Consultant in Paediatric Respiratory Medicine in Royal Brompton Hospital, London, UK
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Now it is assessed that CFTR not only regulate transport of chloride and sodium, but also has other functions, which may influence development of CF. There is opinion that sodium hyperabsorption may be more crucial to CF pathophysiology than chloride secretion. The aims of treating the lungs at different stages of lung disease vary: preventing infection; eradicating early stage infection; reducing the burden of the infective load to minimise inflammation and airway wall damage; detecting and treating unusual organisms; reducing inflammation itself via anti-inflammatory agents; treating the complications of advanced disease. Improvements in conventional management of CF lung disease have led to significant increases in survival over the last few decades. However, there is a huge burden of treatment placed on the patient and carers and life expectancy is still limited, and conventional management is aimed at downstream effects of CFTR dysfunction. Therefore novel methods to restore CFTR function has been the subject of intensive investigation. There are gene therapy, smallmolecule drugs. Many of these are directed for the first time, at the basic defect in CFTR itself.