bilirubin diseases

Question 1

gilberts syndrome

Answer 1

-increased levels of unconjugated bilirubin in blood
-due to either:
1) mutation in UDP glucuronyltransferase
2)impaired ability to move bilirubin into liver
episodes are mild

Question 2

crigler-najjar syndrome

type 1

Answer 2

• increased levels of unconjugated bilirubin in blood
• mutation in UDP glucuronyltransferase = no function

-early onset, kernicterus: brain damage

Question 3

crigler-najjar syndrome

type 2

Answer 3

• increased levels of unconjugated bilirubin in blood
• mutation in UDP glucuronyltransferase = >20% function

-late onset, kernicterus not likely, light therapy used throughout life, sometime can treat with phenobarbitol

Question 4

dubin-johnson

Answer 4

• increased level of conjugated bilirubin
• mutation in “multidrug resistant protein 2”
• hepatocytes can’t secrete bilirubin into bile
• mild jaundice
• liver has black spots
• most common in iranian and moroccan jews in israel

Question 5

rotor syndrome

Answer 5

• build up of uncongugated and MOSTLY conjugated bilirubin
• mutation in OATP1B1 and OATP1B3
• blood can’t transfer bilirubin into liver