Cystic Fibrosis

Question 1

What is the most common lethal genetic disorder?

Answer 1

Cystic Fibrosis

Question 2

What number are carriers of CF in western populations?

Answer 2

1 in 25

Question 3

What are the most common causes of morbidity in CF?

Answer 3

Lung dysfunction

Infection

Question 4

Is CF autosomal recessive or dominant?

Answer 4

Recessive

Question 5

The disease severity of CF is related to what?

Answer 5

Mutation

Question 6

What are the 3 forms of CF screening?

Answer 6

Immunoreactive trypsinogen (IRT)-Guthrie Test.
Genetic screening.
Sweat test

Question 7

What Cl- level indiates CF?

Answer 7

Abov 60mM

Question 8

What Cl- level makes CF unlikely?

Answer 8

Below mM

Question 9

What structural changes occur in CF?

Answer 9

Bronchial wall thickening
Bronchiectasis
Pneumothorax

Question 10

What causes the decline in lung function in CF?

Answer 10

Massive neutrophil infiltration-Frustrated phagocytosis-Failure to clear bac and dying neuts- Inflammatory damage to airway tissue

Question 11

What transfers Cl- out?

Answer 11

CFTR

Question 12

What makes mucus difficult to clear in CF?

Answer 12

Low volume which leads to sticky viscous mucus

Question 13

What does viscous mucus provide?

Answer 13

Growth environment for bacteria

Question 14

How can we partially correct viscous mucus in CF?

Answer 14

Hypertonic saline

Question 15

What organisms cause lung infections in CF?

Answer 15

Pseudomonas aeruginosa
Staph aureus
Haemophilus influenza
Burkholderia cepacia

Question 16

Why are lung infections difficult to treat in CF?

Answer 16

Biofilms grow

Question 17

What prophylactic antibiotics are given to infants with CF for s.aureus?

Answer 17

Fluoxacillin

Question 18

What can be inhaled in CF to prevent pathogens?

Answer 18

Antibiotics- Tobramycin

Question 19

What are B-agonists used for in CF?

Answer 19

Activation of residual CFTR activity

Question 20

What osmotic agents are used in CF?

Answer 20

Hypertonic saline

Mannitol

Question 21

Why is Recombinant DNAse used in CF?

Answer 21

Breaks down viscous mucus (contains large amounts of DNA)

Question 22

Which defect is most common in CFTR in western europeans?

Answer 22

ΔF508

Question 23

What does ataluren target?

Answer 23

Class I (G542X) protein synthesis. Forces read through of premature termination codon.

Question 24

What does Lumacaftor target?

Answer 24

Class II chanel processing (ΔF508 )

Question 25

What does Ivacaftor target?

Answer 25

Class III channel regulation (G551D)

Question 26

What does emiloride do?

Answer 26

Blockes sodium resorption by blocking ENaC