Cystic fibrosis

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.

Clinical features:
Normal lung function at birth. Develop recurrent lungs infections - bronchiectaisis develops at young age; ‘failure to thrive’;

Complications:
Spontaneous pneumothorax; haemoptysis; respiratory failure; cor pulmonale; malabsorption; diabetes (in 10%); delayed puberty; amyloidosis

Management:
Immunise against infections
Antibiotic
Postural drainage
Heart-lung transport
Gene therapy has been experimented with.

Prognosis – median survival around 30 yrs.

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