cystic fibrosis Flashcards
1
Q
what are the consequences of cystic fibrosis?
A
- sweaty sweat
- intestinal blockage
- fibrotic pancreas
- recurrent bacterial lung infections
- filled sinuses
gallbladder and liver disease
2
Q
what is CFTR?
A
- Cystic Fibrosis Trans-membrane conductance Regulator (CFTR)
- there is a CFTR channel defect so lose inhibition of sodium channel so cells fills with Na+ and increase in H2O so this leads to dryness at airway.
- Gene located on long arm of chromosome 7.
3
Q
what is the most common cause of CF?
A
Del508 inherited by one of each parent
4
Q
what is the celtic gene?
A
G551D (Celtic gene = 5% of cases) mutation causes non-functioning channel, helped by Ivacaftor BUT is 200,00 dollars a year.
5
Q
what is the exacerbation management of CF?
A
ABs , Physiotherapy, Adequate hydration, Increased Dietary input
