wilson's disease

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Last updated 8:18 AM on 4/22/26
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8 Terms

1
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what is wilson's disease?

excessive accumulation of copper

2
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how is wilson's disease inherited?

autosomal recessive

3
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what is the mutation that causes Wilson's

mutation of the ATP7B gene on chromosome 13

4
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what are some of the main clinical features of Wilson's disease? (7)

- Kayser-Fleischer rings
- Sunflower cataracts
- acute liver failure
- hepatitis
- cirrhosis
- haemolytic anaemia
- behavioural changes
- blue nails

5
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what are Kayser-Fleischer rings? (2)

- brownish-gold rings around the iris
- caused by copper deposition

<p>- brownish-gold rings around the iris<br>- caused by copper deposition</p>
6
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what are sunflower cataracts?

copper deposits affecting the lens

<p>copper deposits affecting the lens</p>
7
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if wilson's disease causes liver disease, what sign could be seen?

jaundice

8
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what is the first line treatment for Wilson's disease?

penicillamine - chelates copper