wilson's disease

Question 1

What is ‘wilson’s disease’?

Answer 1

1. autosomal recessive metabolic disorder
2. genetic defect in chr 13
3. copper accumulates initially in the liver and other organs

Question 2

What is the pathophysiology of ‘wilson’s disease’?

Answer 2

1. ceruloplasmin production is reduced
2. copper cannot bind to ceruloplasmin to be stored and transported
3. free copper in the blood accumulates and causes sx

Question 3

What are the hall mark clinical features?

Answer 3

1. hepatitis
2. dementia
3. parkinsonism

Question 4

What are the 3 main organs affected?

Answer 4

1. Liver
2. Cornea
3. Neurological

Question 5

Cornea - sx

Answer 5

Kayser- Fleisher rings

Question 6

Neurological - sx

Answer 6

extrapyramidal motor disturbances

1. parkinsonism
2. drooling
3. wing beating tremor

Question 7

Liver - sx

Answer 7

1. hepatosplenomegaly
2. portal hpt
3. jaundice

Question 8

At what age does wilson’s disease present?

Answer 8

12 - 23 years

• young children present with liver disease