Wilsons Disease Flashcards
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
1 - 0.10 cases per 100,000
Affects men and women equally
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
3 - 20-30 years
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
1 - increased copper absorption from the small intestine
2 - decreased hepatic copper excretion
Can lead to hepatitis and cirrhosis
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
3 - kayser-fleischer rings
Brown/yellow rings around the eyes
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
6 - vision loss
Behavioural and psychiatric problems are often the first manifestations
Wilsons disease can cause what in the kidneys?
1 - glomerularnephritis
2 - tubular acidosis
3 - AKI
4 - pyelonephritis
2 - tubular acidosis
Wilsons disease can cause which of the following?
1 - haemolysis
2 - leukocytosis
3 - pancytopenia
4 - all of the above
4 - all of the above
Can lead to blue nails
Which protein is responsible for transporting copper in the plasma?
1 - haem
2 - iron
3 - ceruloplasmin
4 - transferrin
3 - ceruloplasmin
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
- reduced serum copper is because 95% of plasma copper is carried by ceruloplasmin
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
1 - basal ganglia
How is Wilsons disease treated?
1 - hemodialysis
2 - anti-virals
3 - penicillamine
4 - liver transplant
3 - penicillamine
Acts as a chelator of copper