Cystic Fibrosis Flashcards
1
Q
CF
A
autosomal recessive condition
mutation in the CFTR transmembrane regulator gene on chromosome 7
2
Q
CFTR
A
CFTR is located on the apical membrane of the epithelial cells
works as a chloride ion channel
allows efflux of chloride ions
leads to sodium and water efflux which thins mucus secretion and allows flow through hollow organs/ducts.
in CF the CFTR is dysfunctional which leaves mucus and secretions thick, causing obstruction of hollow organs and recurrent infection
liver- CFTR on apical side of epithelial cells, intra and extra hepatic bile ducts, gall bladder.
reduce Cl- so thickened ile= chronic cholestatic liver disease
