Wilson's Flashcards
1
Q
Mutation in Wilson
A
ATP7B
2
Q
Why does liver disease occur in Wilson’s?
A
inability to transport copper from the cytosol to the trans-Golgi network
3
Q
Gilbert defect
A
bilirubin-UGT
mutations in the regulatory elements controlling UGT expression and has mild, jaundice phenotypes
4
Q
Dubin Johnson Mutation
A
MRP-2
transports conjugated bilirubin from the cytoplasm to the cannalicular space
5
Q
Rotor Syndrome defect
A
defective hepatocyte storage of conjugated bilirubin, leading to leakage into the cytoplasm.
6
Q
Crigler-Najjar defect
A
mutations in bilirubin-UGT the gene itself
7
Q
Disease associated with PLE
A
Turner and noonan
8
Q
What part of stomach is spared by Menetriers
A
Antrum
