Wilson's disease Flashcards
1
Q
Which gene is defect in Wilson’s disease?
A
ATP7B leading to increased copper absorption and decreased hepatic copper excretion
2
Q
How can patients with Wilson’s disease typically present?
A
Hepatic problems:
Hepatitis
Cirrhosis
Neurological problems:
Parkinsonism
Dysarthria - slurred speech
Dystonia
Psychiatric problems:
Depression
Psychosis
Other features:
Haemolytic anaemia
Renal tubular acidosis
Osteopenia
3
Q
What investigation results will indicate Wilson’s disease diagnosis?
A
Slit lamp examination will show Kayser-Fleischer rings Reduced serum ceruloplasmin Reduced total serum copper Increased free serum copper Increased 24hr urinary copper excretion
4
Q
How is Wilson’s disease managed?
A
1st line = penicillamine
2nd line = Trientine hydrochloride
