Jaundice

Question 1

Indirect (unconjugated) hyperbilirubinemia

Answer 1

Physiological jaundice

Question 2

Presents first 36-48 hours of life, reaches peak total bilirubin levels 10-15 at 5-7 days of life

Answer 2

Physiological jaundice

Question 3

If severe or prolonged, occurs within first 24 hours of life, or associated with increased directed (conjugated) component

Answer 3

Less likely to be physiological

Question 4

Initial evaluation should include both ________ to establish whether high bilirubin levels are direct or indirect

Answer 4

Total and direct bilirubin

Question 5

Increase feedings, UV phototherapy, exchange transfusion for severe jaundice. Trend serum bilirubin levels

Answer 5

Treatment for physiological jaundice

Question 6

Has an enzyme that delays hepatic bilirubin conjugation and prolongs jaundice in newborns

Answer 6

Breast milk

Question 7

Presents after first 3-5 days of life and peaks at 2 weeks. Total bilirubin levels reach 19-20 and may persist for 1-2 months

Answer 7

Breast milk jaundice

Question 8

Rarely requires phototherapy. Encourage breast feeding because jaundice will usually go away on its own

Answer 8

Breast milk jaundice

Question 9

Direct bilirubin of > ________ OR __________ of total bilirubin indicates a hepatobiliary or general metabolic disorder

Answer 9

10%

2 mg/dL

Question 10

Very high levels of unconjugated bilirubin (> _______ ) can cross the blood-brain barrier and deposit in the basal ganglia causing kernicterus (irreversible, potentially fatal encephalopathy)

Answer 10

30 mg/dL

Question 11

Indirect

Answer 11

Unconjugated bilirubin

Question 12

Direct

Answer 12

Conjugated bilirubin

Question 13

Jaundice, lethargy, poor feeding, high-pitched cry, hypertonicity, and seizures

Answer 13

Kernicterus

Question 14

Order CBC (to assess for anemia), reticulocyte count, and peripheral smear (assess for hemolysis)

Answer 14

Hyperbilirubinemia

Question 15

________ test can distinguish antibody mediated disease (ABO incompatibility) from non-immune mediated (G6PD deficiency, hereditary spherocytosis)

Answer 15

Coombs

Question 16

Most common inherited disorder of bilirubin glucoronidation

Answer 16

Gilbert’s syndrome

Question 17

Caused by defective UGT1A1

Answer 17

Gilbert’s syndrome

Question 18

Rarely diagnosed before puberty. See in adolescence due to hormonal changes

Answer 18

Gilbert’s syndrome

Question 19

Repeated episodes of jaundice with stressors (illness, fever, dehydration, fasting)

Answer 19

Gilbert’s syndrome

Question 20

No treatment available for

Answer 20

Gilberts syndrome

Question 21

Abnormal functioning of the bilirubin-UGT enzyme

Answer 21

Crigler-Najjar Syndrome

Question 22

Liver transplant is the only cure for

Answer 22

Crigler-Najjar Syndrome

Question 23

Increased unconjugated (indirect) bilirubin with normal hepatic enzymes.  
Persistent hyperbilirubinemia despite treatment with phototherapy and exchange transfusion (plasmapharesis)

Answer 23

Crigler-Najjar Syndrome

Question 24

Chronic cholestasis due to paucity (lack) of bile ducts

Answer 24

Alagille syndrome

Question 25

Associated with JAG1 or NOTCH2 mutation

Answer 25

Alagille syndrome

Question 26

Associated with dysmorphic facies and other anomalies of heart, eyes, and vertebrae

Answer 26

Alagille syndrome

Question 27

Pruritus (itchiness) due to cholestasis. Growth failure due to malnutrition. Increased bilirubin, increased GGT, Increased AST/ALT.

Answer 27

Alagille syndrome

Question 28

Diagnosed by liver biopsy showing limited number of bile ducts

Answer 28

Alagille syndrome

Question 29

Treat _________ with ursodiol, rifampin, and bile acid-binding resins

Answer 29

Pruritus

Question 30

Some patients with this disease (20%) will require a liver transplant

Answer 30

Alagille syndrome