Cystic fibrosis Flashcards
what mode of inheritance in seen in CF
autosomal recessive
what is the most common genetic mutation seen in CF
ZF508
what causes CF
a defect in the CF transmembrane protein, which encodes a cAMP regulated chloride channel
describe what happens in CF
in the lung, abnormal sodium and chloride causes thickening of respiratory mucous. The lung is therefore prone to inadequate mucociliary clearance, chronic bacterial infection and lung injury.
what is the diagnostic test for CF
sweat test showing increased chloride levels
what might you see on CXR of a patient with CF
hyperinflation
AP diameter
bronchial dilatation
cysts
linear shadows and infiltrates
describe how children come to be diagnosed with CF
day 5 dried spot test
if IRT elevated, go on to have CF mutation test
x2 mutations = refer to CF team
x1 mutation- day 21 dried blood spot test
describe the normal pharmacological therapies needed
influenza vaccine
oral azithromycin
bronchodilators
mucolytics
pancreatic enzyme supplements
fat soluble vitamin supplements
what is the average life expectancy of a patient with CF
37 years
