cystic fibrosis

Question 1

what is the common infectious organism associated with bronchiectasis + cystic fibrosis called?

Answer 1

pseudomonas aeruginosa

Question 2

what is cystic fibrosis?

Answer 2

common autosomal recessive disorder

Question 3

what is mutated in cystic fibrosis?

Answer 3

transmembrance conductance regulator protein( CFTR )

Question 4

where is the mutation coded on?

Answer 4

chromosome 7

Question 5

what is the most common mutation called?

Answer 5

delta-F508

Question 6

what does abnormal protein channel function (CFTR ) lead to ?

Answer 6

chloride being trapped in the cell

Question 7

what 4 things does the movement of sodium and water into the cell lead to?

Answer 7

• airway surface dehydration
• bacteria collection
• difficulty in coughing
• shearing (accumulation of mucus)

Question 8

what does decreased mucociliary clearance lead to?

Answer 8

• frequent pulmonary infections with bacterial colonisation
  -> chronic damage to pulmonary tree
  –> abnormal dilation (bronchiectasis)

Question 9

what are 3 extrapulmonary effects/

Answer 9

fat malabsorption due to pancreatic insufficiency

risk of osteoporosis

risk of type 2 diabetes

Question 10

what are 5 presentations of cystic fibrosis?

Answer 10

abnormal stools (pale, offensive, float)

chronic productive cough

failure to thrive, weight gain + difficulty growing

haemoptysis

recurrent chest infections

Question 11

what are 7 presentations of cystic fibrosis?

Answer 11

bronchiectasis

chest infections

haemoptysis

infertility

meconium ileus (bowel obstruction)

pancreatic insufficiency

type 2 diabetes