Cystic fibrosis Flashcards
1
Q
inheritance of cystic fibrosis
A
autosomal recessive
2
Q
gene in cystic fibrosis
A
CFTR gene on chromosome 7 encodes for CFTR protein
3
Q
CFTR protein
A
- ATP dependent chloride channel
* important in hydrating mucosal surfaces
4
Q
organs affected in CF
A
- any organ with a duct can be involved
* most common lungs, pancreas, and reproductive
5
Q
result of CFTR mutations
A
thick mucous due to lack of water equilibrium
6
Q
plugging of pancreatic ducts in CF
A
- retention of digestive enzymes -> autodigestion of tissue -> cystic changes
- impaired digestion of food -> failure to thrive
7
Q
lung air duct obstruction in CF
A
- results in alveolar rupture and cyst formation
- susceptible to infection
- chronic cough, wheezing, barrel chest
8
Q
most common mutations
A
ΔF508
508th aa=phenylalanine=F
9
Q
common newborn screening for CF
A
- immunoreactive trypsinogen (IRT) levels
* some labs also do DNA test for some mutations
10
Q
net luminal charge in CF sweat ducts
A
more highly negative than in normal sweat ducts because more chloride ions in the lumen
11
Q
treatment of CF
A
- chest percussion and drainage
- pancreatic enzyme replacement
- DNAse treatment (pulmozyme)
- abx for infection
- CFTR modulator drugs
- lung/pancreas transplant
