Gastroenterology 6 - Wilson's Disease

Question 1

define Wilson’s disease and the mutation

Answer 1

excessive accumulation of copper in tissues

due to autosomal recessive mutation
ATP7B copper-binding protein gene on chrom 13

Question 2

triad of symptom types in Wilson’s

Answer 2

hepatic problems
neurological problems
pyschiatric problems

Question 3

give 6 specific symptoms of Wilson’s disease

Answer 3

hepatitis / cirrhosis 
dysarthria / dystonia
symmetrical Parkinsonism 
depression or psychosis 
haemolytic anaemia
renal tubular acidosis

Question 4

3 investigations for Wilson’s disease + bonus ones

Answer 4

serum caeruloplasmin
liver biopsy gold standard
24 hour urine copper assay
(slit lamp - KF rings, serum copper low)

Question 5

treatments x 2 for Wilson’s disease

Answer 5

penicillamine

trientine