Cystic fibrosis (CF):
Autosomal recessive. 1/2500 live births. Chronic progressive disease that affects mucous secreting glands.
Protein mutation (of cystic fibrosis transmembrane conductance regulator gene) decreased clearance of Cl- ions water retention and secretion of over thick mucous increased viscosity of secretions in lung ciliary dysfunction and chronic bronchial infection.
Normal lung function at birth. Develop recurrent lungs infections - bronchiectaisis develops at young age; ‘failure to thrive’;
Spontaneous pneumothorax; haemoptysis; respiratory failure; cor pulmonale; malabsorption; diabetes (in 10%); delayed puberty; amyloidosis
Immunise against infections
Gene therapy has been experimented with.
Prognosis – median survival around 30 yrs.