CF

Question 1

CF is a autosomal ________ condition

Answer 1

• autosomal recessive

Question 2

What are red flags for the diagnosis of CF?

Answer 2

• Bronchiectasis <40yrs
• bronchiectasis in upper lobes
• recurrent infections
• low weight
• infertility (males)

Question 3

CF mutation effects what?

Answer 3

• CFTR channel
• less CL- reabsorbed
• salty secretions
• thicker secretions

Question 4

What antibiotic treatment should be given to patients with CF?

Answer 4

• phrophylaxis treatment

- 2 antibiotics

Question 5

New drug - CFTR potentiator

Answer 5

• ivacaftor
• aims to increase ion transport of CFTR channel
• targets the G551D mutation

Question 6

What affect does a G551D mutation have?

Answer 6

• CFTR Protein made, but there is issues with the gate opening so Cl- not transported properly
• Class III CFTR Mutation
• Ivacaftor targets

Question 7

What affect does a F508 Deletion mutation have?

Answer 7

• CFTR Protein isnt transported properly and doesnt get to the epithelial surface
• Orkambi (Lumacaftor + Ivacaftor) targets this mutation