Wilsons Disease Flashcards
1
Q
What is Wilsons
A
Aut Recessive mutation of ATP7B (Ch13) causing excess Tissue Copper
2
Q
What are the RF for Wilsons
A
Young
FHx
3
Q
What is the pathology of Wilson’s
A
Impaired Billiary CU excretion = copper accumulation in liver and basal ganglia
4
Q
What are the presentations of Wilson’s
A
Hepatic Sx
Parkinsonism and memory disorder
Kayser Flesicher rings (Cu in cornea)
5
Q
How doe Kayser Fleischer rings present in Wilsons
A
Greeny brown rings of Cu in cornea
6
Q
How is Wilsons investigated
A
Low Serum copper w/ Low Ceruloplasmin
High tissue copper
Liver Biopsy
Brain MRI (Cerebellar and Basal ganglia degeneration)
7
Q
What is the first line treatment for Wilsons
A
D Penicicllinamine (Cu Chelation)
8
Q
What is the management of Wilsons
A
D Penicilliniamine
Avoid Shellfish and Mushroom
Liver transplant
