Hyperbilirubinemias

Question 1

What is clinical seen in Dubin Johnson Syndrome?

Answer 1

Grossly Black Liver

Blacken-Johnson Syndrome

Question 2

Is a black liver seen in Rotor Syndrome?

Answer 2

No

Question 3

Hemachromatosis described in one phrase?

Answer 3

Too much iron in the liver builds up and goes to other parts of the body

Question 4

micronodular Cirrhosis, DM, and Skin pigmentation. Dx?

Answer 4

Hemachromatosis

Question 5

Hemachromatosis Gene? Mutation?

Answer 5

C282Y on HFE gene (Hema-“Fe”)

Question 6

Hemachromatosis association?

Answer 6

HLA-A3

Question 7

In Hemachromatosis what you at increased risk for?

Answer 7

Hepatocellular carinoma

Question 8

Tx of Hemachromatosis?

Answer 8

Phlebotomy

Question 9

secondary Hemachromatosis is due to?

Answer 9

transfusion therapy

Question 10

Wilson’s disease described in one phrase?

Answer 10

Too much copper in liver

Question 11

What is the defect in Wilson’s? What does that gene normally do?

Answer 11

Normally=>copper transporting ATPase

ATP7B gene

Question 12

Genetic defect of Wilson’s?

Answer 12

AR on 13

Question 13

What markers will you see in wilson’s disease? (3 things)

Answer 13

Decreased ceruloplasmin
Corneal deposits
Dementia

Question 14

Why does Physiologic Neonatal Jaundice happen?

Answer 14

immature UDP-glucuronosyltransferase=>unconjugated bilirubin=>kernicterus (bili in basal ganglia)

Question 15

Tx for Physiologic Neonatal Jaundice happen? Why does this work?

Answer 15

Phototherapy

=>converts unconjugated bilirubin to water-soluble form