WILSON’S DISEASE Flashcards

1
Q

What two things does the liver normally do to copper?

which protein is required for these actions?

A
  • 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

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2
Q

What is the dominance of Wilson’s disease?

What is the mutation?

What does this cause?

A
  • 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
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3
Q

What are 3 diagnostic hallmarks of Wilson’s disease?

A
  1. Low ceruloplasmin levelLOW total serum copper level despite copper overload

Note: there is still increased free serum copper, which is what causes deposition in organs

  1. Kayser-Fleischer rings → corneal copper deposits, not seen in any other condition so very good diagnostic test (slit lamp)
  2. High urinary copper excretion → 24 hour test
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4
Q

Mean age of onset of Wilsons disease

A

12-23 yrs

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5
Q

What does Wilsons disease cause in the liver?

A
  • Cirrhosis
  • Hepatocellular carcinoma: needs screening
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6
Q

Why would somebody with Wilsons disease develop parkinsonism?

A

Basal ganglia deposition of copper

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7
Q

Explain why somebody with Wilsons disease might develop a coombs negative haemolytic anaemia

A
  • Deposition of copper in RBCs causes haemolysis
  • Coombs’ test is used to detect antibodies that act against surface of RBCs. Presence indicates haemolytic anemia
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