wilson's disease

Question 1

what is wilson’s disease

Answer 1

autosomal recessive disorder characterised by excessive copper deposition in the tissues

Question 2

features of wilson’s disease

Answer 2

liver: hepatitis, cirrhosis
speech, behavioural and psychiatric problems
kayser-fleischer rings
renal tubular acidosis
haemolysis
blue nails

Question 3

investigations in wilson’s disease

Answer 3

slit lamp
reduced serum caeruloplasmin
reduced total serum copper
increased 24 hour urinary copper excretion
genetic analysis of ATP7B gene- confirm diagnosis

Question 4

management of wilson’s disease

Answer 4

penicillamine
trientine hydrochloride
tetrathiomolybdate