2.1
Cystic fibrosis is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is characterised by abnormal transport of chloride and sodium across transporting epithelia, leading to thick viscous secretions in the lungs, pancreas, liver, intestine and reproductive tract and to an increased salt content in sweat gland secretions. People with cystic fibrosis have problems with their respiratory system and digestion, including prolonged diarrhoea that can affect growth and body mass index. They are prone to lung infections by a range of pathogens including Staphylococcus aureus, Haemophilus influenzae, Pseudomonas aeruginosa and Burkholderia cepacia. This is thought to be because the thick mucus makes it difficult for the body to clear inhaled bacteria, and because people with cystic fibrosis have an increased airway inflammatory response to pathogens. Chronic inflammation and progressive lung destruction from chronic infection can lead to bronchiectasis, altered pulmonary function and respiratory failure.