Wilsons Disease Flashcards

1
Q

Wilson’s disease is an autosomal recessive disorder characterised by excessive copper deposition in the tissues. What is the incidence of Wilsons disease?

1 - 0.10 cases per 100,000
2 - 10 cases per 100,000
3 - 100 cases per 100,000
4 - 1000 cases per 100,000

A

1 - 0.10 cases per 100,000

Affects men and women equally

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2
Q

Wilson’s disease is an autosomal recessive disorder characterised by excessive copper deposition in the tissues. What age does the incidence of Wilsons disease typically peak?

1 - 1-5 years
2 - 10-20 years
3 - 20-30 years
4 - 40-50 years

A

3 - 20-30 years

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3
Q

Wilsons disease is an autosomal recessive disorder caused by a defect in the ATP7B gene located on chromosome 13 that can be confirmed using a liver biopsy. This can result in which 2 of the following that lead to clinical presentations?

1 - increased copper absorption from the small intestine
2 - decreased hepatic copper excretion
3 - increased copper uptake in kidney
4 - increased copper deposits in the lungs

A

1 - increased copper absorption from the small intestine
2 - decreased hepatic copper excretion

Can lead to hepatitis and cirrhosis

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4
Q

Wilsons disease can cause which of the following in the eyes?

1 - acute angle glaucoma
2 - scleral icterus
3 - kayser-fleischer rings
4 - arcus senilis

A

3 - kayser-fleischer rings

Brown/yellow rings around the eyes

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5
Q

Wilsons disease can cause all of the following neurological impairments, EXCEPT which one?

1 - basal ganglia degeneration/ dystonia
2 - speech changes
3 - behavioural and psychiatric
4 - asterixis, chorea, parkinsonism
5 - dementia
6 - vision loss
6 - tremor

A

6 - vision loss

Behavioural and psychiatric problems are often the first manifestations

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6
Q

Wilsons disease can cause what in the kidneys?

1 - glomerularnephritis
2 - tubular acidosis
3 - AKI
4 - pyelonephritis

A

2 - tubular acidosis

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7
Q

Wilsons disease can cause which of the following?

1 - haemolysis
2 - leukocytosis
3 - pancytopenia
4 - all of the above

A

4 - all of the above

Can lead to blue nails

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8
Q

Which protein is responsible for transporting copper in the plasma?

1 - haem
2 - iron
3 - ceruloplasmin
4 - transferrin

A

3 - ceruloplasmin

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9
Q

Which of the following can be used to diagnosis wilsons disease (other than genetic testing?

1 - reduced serum caeruloplasmin
2 - reduced serum copper (counter-intuitive, but 95% of plasma copper is carried by ceruloplasmin)
3 - increased 24hr urinary copper excretion
4 - all of the above

A
  • reduced serum copper is because 95% of plasma copper is carried by ceruloplasmin
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10
Q

An MRI may be used to look at the brain in patients with suspected Wilsons disease and show high signal lesions. Which part of the brain are these most common?

1 - basal ganglia
2 - hippocampus
3 - occipital lobe
4 - cerebellum

A

1 - basal ganglia

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11
Q

How is Wilsons disease treated?

1 - hemodialysis
2 - anti-virals
3 - penicillamine
4 - liver transplant

A

3 - penicillamine

Acts as a chelator of copper

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