E3 cystic fibrosis Flashcards
1
Q
how is CF caused?
A
a mutation in a gene that encodes for the CF transmembrane conductance regulator (CFTR) protein
2
Q
what is the most common mutation in CF?
A
F508del
3
Q
what is the newborn screening tool we may use for CF
A
immunoreactive trypsinogen (IRT)
4
Q
4 things listed under diagnosis of CF
A
- one or more signs/sxs + evidence of CFTR dysfxn
- sweat chloride test
- genetic testing
- pancreatic function
5
Q
A
