CF

Question 1

what is seen in childhood

Answer 1

bronchiectasis

Question 2

how many people carry the gene

Answer 2

1 in 25

Question 3

what is the classical form of the syndrome

Answer 3

bronchopulmonary infection and pancreatic insufficiency, with a high sweat sodium and chloride concentration

Question 4

what mutations occur

Answer 4

F508Del and G551D

Question 5

what channel is mutated

Answer 5

CFTR - chloride channel

Question 6

what regulates CFTR channel

Answer 6

cAMP

Question 7

what happens to the vas deferens

Answer 7

fails to develop - infertile males

Question 8

where is the bronchiectasis found

Answer 8

upper lobe

Question 9

what is a screening test used

Answer 9

faecal elastase - assess exocrine pancreatic dysfunction

Question 10

name 2 diagnostic test

Answer 10

sweat test and genetic testing

Question 11

what is the sweat test

Answer 11

high sweat sodium conc

Question 12

what is seen in spirometry

Answer 12

obstructive defect

Question 13

what is a CFTR potentiator

Answer 13

ivacaftor - improves chloride flow

Question 14

what must you not eat with Ivacaftor

Answer 14

grapefruit

Question 15

what is exocrine failure treated with

Answer 15

CREON

Question 16

what occurs due to endocrine failure

Answer 16

diabetes - managed with OGTT and CGMS

patients need insulin

Question 17

microbiology in childhood

Answer 17

S aureus

Question 18

microbiology as adult

Answer 18

H infleunza

and Strep pneumonia

Question 19

what resistant pathogens do the bronchi become colonised with

Answer 19

Pseudomonas aerugionsa and Burkholderia cepacia

Question 20

what do you treat pseudomonas with

Answer 20

ciprofloxacin