Pathophysiology of Jaundice

Question 1

What enzyme is responsible for the conjugation of bilirubin?

Answer 1

UDP-glycouronosyltransferase

Question 2

(Conjugated/Unconjugated) bilirubin is water-soluble and excreted from the body via bile

Answer 2

Conjugated

Question 3

How is Dubin-Johnson Syndrome characterized?

Answer 3

Elevated conjugated bilirubin due to inability to transport through hepatocytes

Question 4

True/False. Gilbert’s syndrome is irreversible and results in death within the first decade of life.

Answer 4

False. Gilbert’s syndrome is reversible and generally asymptomatic. Jaundice may appear during periods of stress.

Question 5

True/False. Jaundice is due to hypobilirubinemia.

Answer 5

False - it is due to hyperbilirubinemia.

Question 6

This bilirubin syndrome is characterized by failure of bilirubin conjugation.

Answer 6

Crigler-Najjar Syndrome

Question 7

What is the most severe type of Crigler-Najjar Syndrome?

Answer 7

Type 1 - no detectable UGT1A activity and high mortality

Question 8

True/False. Most bilirubin in the body exists in the unconjugated form.

Answer 8

True - 96% is unconjugated

Question 9

How will a liver biopsy appear in a patient with Dubin-Johnson Syndrome?

Answer 9

Brownish pigment due to a collection of epinephrine metabolites

Question 10

This bilirubin disorder is characterized by an impaired ability to excrete conjugated bilirubin from the body.

Answer 10

Rotor Syndrome

Question 11

How will a liver biopsy appear in a patient with Rotor Syndrome?

Answer 11

Unpigmented

Question 12

This bilirubin syndrome is generally asymptomatic and characterized by reduced UGT1A activity and difficulty getting bilirubin into hepatocytes for conjugation.

Answer 12

Gilbert’s Syndrome