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Question 1

what is cystic fibrosis

Answer 1

autosomal recessive condition causing multisystemic symptoms

Question 2

what is the mc mutation in cystic fibrosis and gene affected

Answer 2

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

Question 3

pathophysiology of cystic fibrosis

Answer 3

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

Question 4

describe pancreatic effect of cystic fibrosis

Answer 4

obstruction in pancreatic duct
pancreatic enzymes stasis and autodegragtion of vessels and parenchyma -> inflammation causes malabsorption

Question 5

signs and symptoms of cystic fibrosis at infancy

Answer 5

meconium ileus - inability to pass first stool

Question 6

signs and symptoms of cystic fibrosis at childhood

Answer 6

• 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

Question 7

signs and symptoms of cystic fibrosis at adulthood

Answer 7

• absence of vans deferens in males
• recurrent respiratory infections

Question 8

diagnostic test in utero of cystic fibrosis

Answer 8

amniocentesis

Question 9

test for cystic fibrosis in infancy

Answer 9

guinthe heel prick test - postive INR

Question 10

test for cystic fibrosis in childhood and adulthood

Answer 10

sweat test - high levels of chlorine

Question 11

management for cystic fibrosis

Answer 11

• conservative: physio for airway clearance
• ## bronchodilators