what is cystic fibrosis
autosomal recessive condition causing multisystemic symptoms
what is the mc mutation in cystic fibrosis and gene affected
mutation of the CFTR gene (cystic fibrosis transmembrane conductance regulator)
mc is the delta (triangle)F508 mutation causing the absence of phenylalaine
misfolded CFTR protein-> abnormal calcium channel
pathophysiology of cystic fibrosis
misfolded chlorine channel on cell membrane
dysfunctional movement of na and cl in and out of cell
causing less water to be drawn in to mucous secretions
secretions are thick and viscous rather than thin
describe pancreatic effect of cystic fibrosis
obstruction in pancreatic duct
pancreatic enzymes stasis and autodegragtion of vessels and parenchyma -> inflammation causes malabsorption
signs and symptoms of cystic fibrosis at infancy
meconium ileus - inability to pass first stool
signs and symptoms of cystic fibrosis at childhood
- failure to thrive (low wt) due to lack of food absorption
- steatorrrhoea (lack of fat breakdown)
- recurrent respiratory infections
- vervacious appeitite (never satieated)
- dyspnoea
- productive cough
signs and symptoms of cystic fibrosis at adulthood
- absence of vans deferens in males
- recurrent respiratory infections
diagnostic test in utero of cystic fibrosis
amniocentesis
test for cystic fibrosis in infancy
guinthe heel prick test - postive INR
test for cystic fibrosis in childhood and adulthood
sweat test - high levels of chlorine
management for cystic fibrosis
- conservative: physio for airway clearance
- ## bronchodilators
