Presentation
Pathophysiology
Factoids
100
What would you expect to see on a liver biopsy?
Cirrhosis
100
What is the mutated gene normally involved in?
Copper transport
100
What is the heavy metal responsible for the disease process?
Copper
200
When do these patients typically present?
Before the age of 40. Pathoma says during childhood
200
This heavy metal is not incorporated into which important molecule?
Ceruloplasmin
200
What is the inheritance pattern?
Autosomal recessive
300
Pathognomonic eye finding and where in the eye
Kayser-Fleisher rings in cornea
300
What is the process that leads to tissue damage?
Copper-mediated production of hydroxyl free radicals
300
What is the mutation responsible for Wilson disease?
ATP7B
400
What are the important neurologic manifestations? At least 5 out of the 7. 
Behavioral changes, dementia, chorea, dystonia, tremor, dysarthria, parkinsonism
400
Where does this heavy metal typically deposit? Be specific
Cornea, Brain (basal ganglia), Liver, and Kidney
400
What are patients at an increased risk of developing?
HCC
500
Treatment?

chelation with penicillamine or trientine, oral zinc

500
Labs show:

__ urinary copper

__ serum ceruloplasmin

__ copper on liver biopsy

increased urinary copper

decreased serum ceruloplasmin

increased copper on liver biopsy

500
Which chromosome is the mutated gene on?
Chromosome 13
M
e
n
u