Genetics Flashcards
How many people carry the gene for CF?
1 in 25 people
What does the CF trans-membrane conductance regulator do? (CFTR)
It activates (pumps out Cl-) and inhibits ENAC (stops Na coming in)
What happens if CFTR doesn’t work? (how CF is caused)
Cl isn’t pumped out and Na leaks into the cell, H2O also moves in with osmosis to decrease the salt level
What does a mutation in CFTR result in?
it causes dryness in the lumen
What consequences does dryness in the lumen have? (name 3)
- salty sweat
- intestinal blockage
- fibrotic pancreas
How many classes of defects in the CFTR are there?
5
Name the mutation types
Missense,
deletion (in frame),
premature stop,
deletion (frameshift)
What kind of disease is CF?
recessive
How can CF be treated?
With antibiotics that target the pancreas, bowels and liver
with regular clinic review
How is the pancreas affected in CF (exocrine)
the ducts become slugged up
there is a failure to secrete lipase and amylase
there is digestive failure
How is the pancreas affected in CF (endocrine)
destructs pancreatic islet cells
the pancreatic tissue is replaces with fat
What tablet is taken by CF patients to combat exocrine failure in the pancreas?
Creon, a pancreatic enzyme
How is the bowel affected in CF?
thick mucus blocks up the large and small intestine, leading to distal interstitial obstruction syndrome (DIOS)
How can the bowel be treated in CF?
Gastrograffin
Laxido
Fluids
How is the liver affected in CF?
The hepatic ducts become slugged up
there is portal hypertension
portal duct becomes blocked (TIPSS)
