Exam 3 - Cystic Fibrosis Pettit

Question 1

cystic fibrosis is a(n) _______ _______ genetic disease

Answer 1

autosomal recessive

Question 2

CF is caused by a mutation in a gene that encodes for the _____ protein

Answer 2

CFTR (cystic fibrosis transmembrane conductance regulator)

Question 3

most common mutation in CF

Answer 3

F508del

Question 4

newborn screens for CF (2 of them)

Answer 4

-blood spot from infant
-immunoreactive trypsinogen (IRT)

Question 5

T or F: a positive IRT in newborns is diagnostic for CF

Answer 5

F (further testing required for diagnosis)

Question 6

diagnosis of CF: > ___ mEq/L on a sweat chloride test

Answer 6

> 60 mEq/L

Question 7

Kalydeco (ivacaftor) is a CFTR ________

Answer 7

potentiator

(helps “open the gate” so chloride can flow through)

Question 8

birth control drug interaction

a. kalydeco
b. orkambi
c. symdeko
d. trikafta

Answer 8

b. orkambi

Question 9

SE of chest tightness and SOB with initiation in some patients

a. kalydeco
b. orkambi
c. symdeko
d. trikafta

Answer 9

b. orkambi