CF

Question 1

What are the most common mutation classes?

Answer 1

Class1-4 are most common. Class two by far the most common (50% homozygous)

Question 2

Class 1 mutation

Answer 2

premature stop codon (12%)

Question 3

class 2 mutation

Answer 3

delta f508; misfolding and subsequent destruction

Question 4

class 3 mutation

Answer 4

Protein doesnt open

Question 5

class 4 mutation

Answer 5

decreased ion movement

Question 6

class 5 and 6 mutation

Answer 6

low abundance, increased turnover

Question 7

can genotype predict phenotype severity?

Answer 7

In all organs but the lungs which are much more environmentally impacted

Question 8

Does infection or inflammation come first

Answer 8

infection

Question 9

What is the leading CF pathophys hypothesis

Answer 9

Low volume hypothesis. Increased Na movement so periciliary fluid layer loses H2O. Cloride moves paracellularly

Question 10

what are the most common infecting organisms in CF

Answer 10

Pseudomonas and staph aureus

Question 11

What are part of the CF treatment regimen

Answer 11

DNAase, hypertonic saline, mannitol, pancreatic enzymes, beta2 agonists, antibiotics, anti-inflammatories, others.

Question 12

What does Gentamicin do?

Answer 12

allows reading thru stop codon.