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Cystic fibrosis (CF) is a common inherited disease that mostly affects the lungs and airways of a sufferer. One of the main pathological characteristics of CF is the failure of airway defence against bacterial infection, leading to frequent chest infection and progressive lung damage.
In CF the airway surface fluid (more commonly known as 'mucus') is thicker and has a reduced liquid volume (dehydrated). Thicker secretions are also seen from the pancreas, consequently also affecting the digestive system by blocking the passage of pancreatic enzymes into the gut.
The disease is caused by mutations in the gene for the CF transmembrane conductance regulator (CFTR), a phosphorylation-regulated chloride channel which is located in the apical membrane of epithelia. The loss of CFTR channel function leads to abnormal transepithelial salt and fluid transport and concentration. CF sufferers present with mucus containing higher Cl- and Na+ compared to healthy subjects due to defective cAMP-dependent Cl- secretion and increased airway Na+ absorption caused by the CFTR mutation. This high salt concentration can prevent bacteriocidal activity on the epithelia, leading to an increased chance of infection, most commonly by the bacteria Pseudomona aeruginosa or Staphylococcus aureus. Infection leads to an inflammatory response in CF airways, which over time can become exaggerated and promote lung damage.
There is no treatment for CF. Therapeutics agents for treatment include blockers of Na+ transport, initiators of Cl- transport, inhaled corticosteroids, antibiotics and bronchodilator drugs. Lung transplantation is occasionally required in more severe cases.