Wilson's Disease - Lenticulo-hepatic Degeneration

Question 1

This is a monogenic autosomal ______ disease where you get the loss of function or protein mutations in ________.

Answer 1

This is a monogenic autosomal recessive disease where you get the loss of function or protein mutations in caeruloplasmin.

Question 2

what is the function of caeruloplasmin normally?

Answer 2

it is a copper binding protein

Question 3

what happens when caeruloplasmin goes wrong?

Answer 3

get the loss of copper regulation and massive deposition of copper especially in the liver and basal ganglia

Question 4

presentation can be either or rarely both: _____, _____ or Kaiser Fleischer ____

Answer 4

neurological, hepatic, rings

Question 5

what are the signs of neurological disease?

Answer 5

chorea atheitoid movements

Question 6

what happens in hepatic form? 2

Answer 6

get cirrhosis and sub-fulminant liver failure

Question 7

what is the treatment?

Answer 7

copper chelation drugs