Wilson's disease

Question 1

Pathophys

Answer 1

Autosome recessive inheritance ch 13.
Inadequate hepatic copper excretion
Failure of copper to enter circulation as ceruloplasmin

Copper accumulation in liver, brain, cornea, kidney, and joints.

Question 2

Characterized by

Answer 2

“Copper is Hella BAD”

Ceruloplasmin low
Cirrhosis
Corneal deposit
Copper accumulation
Carcinoma (HCC)
Hemolytic anemia
Basal ganglia degeneration (parkinson symptoms)
Asterixis
Dementia, dyskinesia, dysarthria

Question 3

Treatment

Answer 3

Penicillamine

Copper normally excreted into bile by hepatocyte by copper transporting ATPase (ATP7B gene)