Wilson's Disease

Question 1

what

Answer 1

excessive accumulation of copper in body and tissues

Question 2

what is it caused by

Answer 2

mutation of wilson’s disease protein on chrosome 13

autosomal recessive

Question 3

wilson’s disease protein proper name

Answer 3

ATP7B copper binding protein

Question 4

features

Answer 4

hepatic problems: hepatitis + cirrhosis 
Neuro problems: dysarthria, dystonia, parkinsonism, depression 
kayser-fleicsher rings in cornea
haemolytic anemia
renal tubular damage
osteopenia

Question 5

Dx

Answer 5

low serum caeruloplasmin

liver biopsy for liver copper content

Question 6

Mx

Answer 6

copper chelation using

• penicillamine
• trientene