Gilberts Syndrome

Question 1

Gilberts syndrome is the most common cause of…

Answer 1

hereditary jaundice

Question 2

What are risk factors for Gilbert’s syndrome?

Answer 2

Male
T1DM
Genetics

Question 3

True or false: Gilbert’s is an autosomal dominant condition?

Answer 3

False
Is autosomal recessive
Mutation in UDP1A1 gene

Question 4

What does UGT (UDP-glucoronosyltransferase) do?

Answer 4

UGT catalyses attachment of glucoronic acid to variety of compounds including bilirubin (conjugation). Can then be excreted.

Question 5

What happens to UGT levels in Gilbert’s?

Answer 5

Deficient or abnormal UGT

Question 6

Put simply, what is Gilbert’s syndrome?

Answer 6

Deficient of abnormal UGT causes unconjugated hyperbilirubinaemia

Question 7

What are symptoms of Gilbert’s syndrome?

Answer 7

30% are asymptomatic.

May present with painless jaundice when young

Question 8

How do you treat Gilbert’s syndrome?

Answer 8

Should be ok without treatment.

Question 9

What is a complication of accumulation of bilirubin in basal ganglia in children?

Answer 9

Kernicterus, severe neurological deficits

Question 10

What can be used to help lower unconjugated bilirubin levels, especially in babies with Gilbert’s syndrome leading to Kernicterus?

Answer 10

Phototherapy

Question 11

What is Criggler Najjar syndrome?

Answer 11

More severe Gilbert’s syndrome with more severe jaundice, N+V and lethargy