Cystic Fibrosis

Question 1

Presentation: cough with foul smelling sputum; hemoptysis; CPX; crackles and wheezing

Answer 1

Bronchiectasis

Question 2

permanent abnormal dilation and destruction of the large bronchi walls; can be caused by inflammation or infection of airways

Answer 2

bronchiectasis

Question 3

Non-cystic fibrosis cause of bronchiectasis

Answer 3

H. influenzae

Question 4

Disease: CFTR gene on chromosome 7

Answer 4

Cystic fibrosis

Question 5

Most common CTFR gene mutation seen in Cystic Fibrosis

Answer 5

Class 2 Delta F502 (class 2 is transmutation that gets stuck in Golgi apparatus)

Question 6

Pathophysiology of cystic fibrosis

Answer 6

CTFR gene mutation causes malfunction of chloride channel; NaCl seeps out of skin (salty tasting skin)

Question 7

What happens in the lungs in cystic fibrosis?

Answer 7

NaCl can’t leave and causes mucosal thickening, poor mucous clearing by ciliary in lungs resulting in mucous obstruction

Question 8

Screening for CF (since 2000)

Answer 8

IRT concentration; if high do DNA panel for CF mutation

Question 9

Confirming test for CF

Answer 9

Sweat chloride test; >60mmol/L is positive and definitive for DX