Cystic Fibrosis

Cystic Fibrosis

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


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