Gilbert And Criggler Najjar

Question 1

What type of genetic condition is Gilbert’s syndrome?

Answer 1

Autosomal recessive

This means that two copies of the mutated gene must be present for the condition to manifest.

Question 2

What is the underlying defect in Gilbert’s syndrome?

Answer 2

Defective bilirubin conjugation due to a deficiency of UDP glucuronosyltransferase

This enzyme is crucial for the metabolism of bilirubin.

Question 3

What is the prevalence of Gilbert’s syndrome in the general population?

Answer 3

Approximately 1-2%

This indicates that it is relatively common compared to other genetic disorders.

Question 4

What is a key feature of Gilbert’s syndrome related to bilirubin levels?

Answer 4

Unconjugated hyperbilirubinaemia

This means that the bilirubin is not excreted in urine.

Question 5

When might jaundice be observed in individuals with Gilbert’s syndrome?

Answer 5

During an intercurrent illness, exercise, or fasting

These conditions can trigger a temporary increase in bilirubin levels.

Question 6

What is the primary investigation for Gilbert’s syndrome?

Answer 6

Rise in unconjugated bilirubin following prolonged fasting or IV nicotinic acid

These tests help confirm the diagnosis by demonstrating the body’s response.

Question 7

Is treatment required for Gilbert’s syndrome?

Answer 7

No treatment required

The condition is generally benign and does not lead to serious health issues.

Question 8

How does UGT1A1 enzyme activity in Gilbert’s syndrome compare to Crigler-Najjar syndrome?

Answer 8

In Gilbert’s syndrome, UGT1A1 enzyme activity is reduced but not absent; in Crigler-Najjar syndrome, it is severely reduced or completely absent

This distinction helps differentiate these two conditions clinically.