CF Flashcards
1
Q
What is the mutation that causes of CF?
What is the cause of this mutation?
A
deletion of delta508 in CFTR gene on chrom 7q
defective CFTR Cl- channel
2
Q
How does a baby with CF present?
A
- salty skin
- meconium illius (no abnormalities with GI tract, poop just gets stuck due to super viscous pancreatic secretions)
- failure to thrive
3
Q
What causes all the problems in CF?
A
thick mucous secretions createes plugs in lungs, pancreas, and liver
4
Q
What problems do CF pts have?
A
chronic bronhcitis --> bronchiectasis pancreatic insufficiency --> FATTY REPLACEMENT billiary cirrhosis fat soluble vitamin def infertility in men
5
Q
How is CF diagnosed?
A
high Cl- conc in sweat test
6
Q
What pneumonia is assc with CF?
A
pneudomonas and s.aureus
7
Q
What is the treatment for CF?
A
N-Acetylcysteine loosens plugs by cleaving disulfide bonds in mucous glycoproteins
