Pathology: Abnormalviscosity of mucus produced at the epithelial surfaces causing recurrentinfections and bronchiectasis in lungs
Patientsalso have pancreatic insufficiency amongst other secretory problems
Aetiology: Autosomalrecessive defect in the cystic fibrosis transmembrane conductance regulator(CFTR) gene located on the long arm of chromosome 7.
CFTR controls chloride channelbehavior causing defective chloride secretion and increased sodium absorptionaltering the composition of mucus secretions
Symptoms: Asthose of bronchiectasis , failure to thrive, and steatorrhoea secondary topancreatic insufficiency
Signs: Asthose with bronchiectasis, usually presenting in the first years of life,malnourishment, males are infertile due to the absence of the vas deferens
Investigations: Sweattest to look for excess sweat sodium, DNA analysis, Chest X-Ray, CT Thorax andpulmonary function tests
Treatment: Physiotherapyfor sputum clearance, nutrition and supplemental pancreatic enzymes
Antibiotics,mucolytics, nebulised antibiotics, lung/heart-lung transplants
Complications: Recurrentinfections, respiratory failure
Prognosis: Mediansurvival is around 40 years
