WILSON’S DISEASE Flashcards
What two things does the liver normally do to copper?
which protein is required for these actions?
- Excretes copper into bile
- Incorporates copper into ceruloplasmin (transport molecule) → released into serum where it carries copper to other organs
► Both functions require hepatic copper transport protein ATP7B
What is the dominance of Wilson’s disease?
What is the mutation?
What does this cause?
- Autosomal recessive
- Mutation of ATP7B gene (chromosome 13)
⇒ copper not excreted into bile + ceruloplasmin not secreted into plasma
- Disease causes accumulation of copper in liver → damage. Also deposits in brain, cornea, kidneys, joints
What are 3 diagnostic hallmarks of Wilson’s disease?
- Low ceruloplasmin level → LOW total serum copper level despite copper overload
Note: there is still increased free serum copper, which is what causes deposition in organs
- Kayser-Fleischer rings → corneal copper deposits, not seen in any other condition so very good diagnostic test (slit lamp)
- High urinary copper excretion → 24 hour test
Mean age of onset of Wilsons disease
12-23 yrs
What does Wilsons disease cause in the liver?
- Cirrhosis
- Hepatocellular carcinoma: needs screening
Why would somebody with Wilsons disease develop parkinsonism?
Basal ganglia deposition of copper
Explain why somebody with Wilsons disease might develop a coombs negative haemolytic anaemia
- Deposition of copper in RBCs causes haemolysis
- Coombs’ test is used to detect antibodies that act against surface of RBCs. Presence indicates haemolytic anemia