Pediatric Liver Disease

Question 1

Heme gets metabolized to ____________, which itself gets metabolized to ______________.

Answer 1

biliverdin (by heme oxygenase); bilirubin (by biliverdin reductase)

Question 2

In the liver, unconjugated/indirect bilirubin gets metabolized to ______________.

Answer 2

conjugated/direct bilirubin

Question 3

The most common cause of neonatal jaundice is ___________.

Answer 3

physiologic

Question 4

True or false: physiologic neonatal jaundice usually presents at birth.

Answer 4

False. It usually presents 24 hours after birth.

Question 5

What are the three reasons that physiologic neonatal jaundice occurs?

Answer 5

(1) Increased RBC turnover
(2) Immature liver conjugation system
(3) Deconjugating enzymes in breast milk

Question 6

Physiologic neonatal jaundice usually resolves in ____________.

Answer 6

10 days to 1 month –sometimes requires phototherapy

Question 7

Physiologic neonatal jaundice usually proceeds from ____________.

Answer 7

head to feet

Question 8

What are the clinical characteristics that suggest pathologic neonatal jaundice?

Answer 8

• Present in the first 24 hours or after the first 14 days
• Very high indirect bilirubin
• Very high total bilirubin
• Rapid increase in bilirubin

Question 9

What are the kinds of hereditary hyperbilirubinemia?

Answer 9

Unconjugated bilirubinemia:

• Crigler-Najjar syndrome: mutation in the conjugating glucuronyl enzyme (AR form is severe; AD form is less severe)
• Gilbert syndrome: variable expression of UGT, with stress-induced bilirubinemia being the main symptom

Conjugated bilirubinemia:

• Dubin-Johnson syndrome: defect in the protein responsible for excretion of conjugated bilirubin
• Rotor syndrome: unknown

Question 10

Choledochal cysts present by age ________, though they are present at birth. What are the presenting symptoms?

Answer 10

10; fever, RUQ mass, and pain

Question 11

What is the incidence of biliary atresia? How does it present?

Answer 11

1/10,000; presents with high levels of conjugated bilirubin

Question 12

Perinatal biliary atresia is due to ____________.

Answer 12

trick question… the cause is not known

Question 13

Biliary atresia presents with __________________.

Answer 13

liver inflammation and fibrosis

Question 14

Hepatoportoenterostomy works (the Kasai procedure) if performed before age________.

Answer 14

2 months (hence, the diagnosis of biliary atresia is urgently needed)

Question 15

The hallmark of idiopathic neonatal hepatitis is ___________.

Answer 15

giant-cell transformation

Question 16

The most common malignant hepatic neoplasm in children is ______________.

Answer 16

hepatoblastoma

Question 17

Hepatoblastoma presents with elevation of what serum marker?

Answer 17

Alpha-feto protein

Question 18

Those with FAP have an increased risk of what hepatic neoplasm?

Answer 18

Hepatoblastoma (which also arises from defects in the Wnt/beta-catenin pathway)

Question 19

Describe the stages and survival of hepatoblastoma.

Answer 19

1: complete resection possible; 100% survival
2: microscopic residual tumor; 75% survival
3: positive lymph nodes and residual tumor; 65% survival
4: metastatic; 27% survival

Question 20

The classic triad of choledochal cyst presentation is _____________.

Answer 20

jaundice, RUQ mass, and abdominal pain

Question 21

This kind of biliary atresia presents with a normal extrahepatic bile duct which degenerates after birth.

Answer 21

What is perinatal biliary atresia –the most common type

Question 22

A baby presents to you with extremely high levels of unconjugated bilirubin. What enzyme are they likely deficient in?

Answer 22

UGT-1A1 (UDP-glucuronyltransferase-1A1)

Question 23

A patient with a black liver on autopsy most likely had a defect in which protein?

Answer 23

Multidrug-resistant protein 2 (this describes Dubin-Johnson syndrome)

Question 24

There is a benign liver lesion that typically presents in those younger than age 2: ________________.

Answer 24

mesenchymal hamartoma –a multicystic lesion with mature tissues

Question 25

What genetic syndromes presents with increased risk of a hepatic neoplasm that may have elevated levels of beta-hCG?

Answer 25

Beckwith-Wiedemann syndrome and FAP (both of which increase risk for hepatoblastoma)

Question 26

Idiopathic neonatal hepatitis has a ____________ prognosis.

Answer 26

trick question… the sporadic kind has a good prognosis and the familial kind has a bad prognosis

Question 27

_____________ can recapitulate many tissues, including bone.

Answer 27

Hepatoblastoma