CF

Question 1

What is the mutation that causes of CF?

What is the cause of this mutation?

Answer 1

deletion of delta508 in CFTR gene on chrom 7q

defective CFTR Cl- channel

Question 2

How does a baby with CF present?

Answer 2

• salty skin
• meconium illius (no abnormalities with GI tract, poop just gets stuck due to super viscous pancreatic secretions)
• failure to thrive

Question 3

What causes all the problems in CF?

Answer 3

thick mucous secretions createes plugs in lungs, pancreas, and liver

Question 4

What problems do CF pts have?

Answer 4

chronic bronhcitis --> bronchiectasis
pancreatic insufficiency --> FATTY REPLACEMENT
billiary cirrhosis 
fat soluble vitamin def
infertility in men

Question 5

How is CF diagnosed?

Answer 5

high Cl- conc in sweat test

Question 6

What pneumonia is assc with CF?

Answer 6

pneudomonas and s.aureus

Question 7

What is the treatment for CF?

Answer 7

N-Acetylcysteine loosens plugs by cleaving disulfide bonds in mucous glycoproteins