Wilson's Disease Flashcards
1
Q
what
A
excessive accumulation of copper in body and tissues
2
Q
what is it caused by
A
mutation of wilson’s disease protein on chrosome 13
autosomal recessive
3
Q
wilson’s disease protein proper name
A
ATP7B copper binding protein
4
Q
features
A
hepatic problems: hepatitis + cirrhosis Neuro problems: dysarthria, dystonia, parkinsonism, depression kayser-fleicsher rings in cornea haemolytic anemia renal tubular damage osteopenia
5
Q
Dx
A
low serum caeruloplasmin
liver biopsy for liver copper content
6
Q
Mx
A
copper chelation using
- penicillamine
- trientene
