Gilbert's syndrome

Question 1

what mode of inheritance is Gilbert’s syndrome?

Answer 1

autosomal recessive

Question 2

what characterises Gilbert’s syndrome?

Answer 2

• decreased activity of UDP glucuronosyltransferase
• build up of unconjugated bilirubin

Question 3

what part of life does Gilbert’s syndrome usually manifest?

Answer 3

20s/30s

Question 4

what percentage of white adults in Europe have Gilbert’s syndrome?

Answer 4

5%

Question 5

how do patients with Gilbert’s syndrome usually present?

Answer 5

with jaundice, usually precipitated by stress or infection

Question 6

what happens to LFT results in Gilbert’s syndrome?

Answer 6

everything normal apart from bilirubin

Question 7

Which gene mutation is responsible for causing Gilbert’s syndrome?

-Human homeostatic iron regulator (HFE) gene
-Glucose-6-phosphate dehydrogenase (G6PD) gene
-UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) gene
-ATP-binding cassette sub-family C member 2 (ABCC2) gene
-ATP7B gene

Answer 7

UGT1A1