Wilson's

Question 1

What chromosome is the defect in Wilson’s on?

Answer 1

13

Autosomal recessive

Question 2

WHat is pathophysiology of Wilson’s disease?

Answer 2

Cu accumulation in brain, and liver and skin etc

Question 3

What are neuro symptoms of Wilson’s?

Answer 3

Dystonia
Dysarthria
Parkinsonims (symmetrical)
Depression/psychosis

Question 4

What are Hepatic symptoms of Wilson’s

Answer 4

Haemolytic anaemia

Cirrhosis

Question 5

What are other systemic symptoms of Wilsons

Answer 5

Kayser Fleicher rings on slit lamp exam
Osteopaenia and renal tubular damage
Acidosis

Question 6

How is Wilson’s diagnosed?

Answer 6

Serum caeruloplasmin level
24hr urine assay
LIVER BIOSPY GOLD STANDARD

Question 7

How is Wilson’s maaged?

Answer 7

Penecillamine

Question 8

Gilberts inheritance

Answer 8

Gilbert’s syndrome is an autosomal recessive*

Question 9

What happens in Gilberts?

Answer 9

defective bilirubin conjugation due to a deficiency of UDP glucuronosyltransferase. The prevalence is approximately 1-2% in the general population.

Question 10

WHat are clinical feautres of Gilberts?

Answer 10

Features
unconjugated hyperbilirubinaemia (i.e. not in urine)
jaundice may only be seen during an intercurrent illness, exercise or fasting

Question 11

How is Gilberts investigated and managed?

Answer 11

investigation: rise in bilirubin following prolonged fasting or IV nicotinic acid
no treatment required