Flashcards in cystic fibrosis Deck (5)
what are the consequences of cystic fibrosis?
- sweaty sweat
- intestinal blockage
- fibrotic pancreas
- recurrent bacterial lung infections
- filled sinuses
gallbladder and liver disease
what is CFTR?
- 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.
what is the most common cause of CF?
Del508 inherited by one of each parent
what is the celtic gene?
G551D (Celtic gene = 5% of cases) mutation causes non-functioning channel, helped by Ivacaftor BUT is 200,00 dollars a year.