CF Flashcards
1
Q
Which is a common mutation in CF?
A
F508
2
Q
What genetic abnormality occurs in CF?
A
Autosomal resessive
Transmembrance conductance regulator protein on chromo 7:
- reduce chloride secretion from epithelium
- reduced Na absorption from lumen
They cause reduced airway surface liquid, sticky muscous, shearing and impaired bacterial killing.
3
Q
Name 3 diagnosis tests of CF
A
Antenatal testing, neonatal screening and post natal sweat test
4
Q
What are common clinical manifestations of CF?
A
Pancreatic insufficiency and diabetes
Infection and bronchiectasis
5
Q
What are the first cardinal features?
A
Pancreatic insufficiency:
- abnormal stools
- failure to thrive
- diabetes
