Wilson's disease

Question 1

inheritance of wilson disease ?

Answer 1

recessive

Question 2

Wilson’s disease is caused by a defect in

Answer 2

ATP7B gene located on chromosome 13.

Question 3

Features of wilson disease ?

Answer 3

Children usually present with liver disease : hepatitis, cirrhosis

young adults is often neurological disease : basal ganglia degeneration
most copper is deposited in the basal ganglia, particularly in the putamen and globus pallidus

Kayser-Fleischer rings

renal tubular acidosis (esp. Fanconi syndrome)

haemolysis

blue nails

Question 4

first neurological manifestations of wilson ?

Answer 4

speech, behavioural and psychiatric proble

Question 5

late neurological features of wilson ?

Answer 5

asterixis, chorea, dementia, parkinsonism

Question 6

diagnosis for wilson disease ?

Answer 6

slit lamp examination for Kayser-Fleischer rings

reduced serum caeruloplasmin

reduced total serum copper (counter-intuitive, but 95% of plasma copper is carried by ceruloplasmin)

free (non-ceruloplasmin-bound) serum copper is increased

increased 24hr urinary copper excretion

Question 7

the diagnosis is confirmed by

Answer 7

genetic analysis of the ATP7B gene

Question 8

Management first line ?

Answer 8

penicillamine (chelates copper) has been the traditional first-line treatment

trientine hydrochloride