Chronic respiratory presentations

Question 1

What is the most common gene mutation in CF

Answer 1

delta 508F

Question 2

What proportion of the UK is a carrier for CF

Answer 2

1 in 25

Question 3

what channel is defective in CF

Answer 3

chloride

Question 4

What organs are affected by CF

Answer 4

Lung, liver, gut, pancreas, reproductive

Question 5

What organism is a significant risk in CF

Answer 5

Pseudomonas

Question 6

What is class I CF

Answer 6

No protein is present

Question 7

What is class II CF

Answer 7

The protein is made but isnt integrated in the cell membrane

Question 8

What is class III CF

Answer 8

The protein is non-functional

Question 9

What is class IV CF

Answer 9

The protein is sub functional

Question 10

What is class V CF

Answer 10

Less protein is made

Question 11

What is class VI CF

Answer 11

The protein is unstable

Question 12

What is PCD

Answer 12

Primary Ciliary Dyskinesia

Cilia are non-functional so mucous isnt cleared

Question 13

How might someone with PCD present

Answer 13

Recurrent ear infections 
Runny Nose 
Wet cough even when well
Hearing problems 
Wheezing/SOB
Clubbing

Question 14

What is the basis for treatment of PCD

Answer 14

Control and prevention of exacerbations
Optimise nutrition and psychosocial support
Airway clearance techniques

Question 15

What is bronchiectasis

Answer 15

Underlying condition affecting the lungs (innate or environmental), results in endo-bronchial infection/injury, impairment of muco-ciliary apparatus, hypersecretion and hyperresponsiveness, airway inflammation, restarts cycle