Pediatric Liver Disease Flashcards Preview

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Flashcards in Pediatric Liver Disease Deck (27):
1

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

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

2

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

conjugated/direct bilirubin

3

The most common cause of neonatal jaundice is ___________.

physiologic

4

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

False. It usually presents 24 hours after birth.

5

What are the three reasons that physiologic neonatal jaundice occurs?

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

6

Physiologic neonatal jaundice usually resolves in ____________.

10 days to 1 month – sometimes requires phototherapy

7

Physiologic neonatal jaundice usually proceeds from ____________.

head to feet

8

What are the clinical characteristics that suggest pathologic neonatal jaundice?

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

9

What are the kinds of hereditary hyperbilirubinemia?

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

10

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

10; fever, RUQ mass, and pain

11

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

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

12

Perinatal biliary atresia is due to ____________.

trick question... the cause is not known

13

Biliary atresia presents with __________________.

liver inflammation and fibrosis

14

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

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

15

The hallmark of idiopathic neonatal hepatitis is ___________.

giant-cell transformation

16

The most common malignant hepatic neoplasm in children is ______________.

hepatoblastoma

17

Hepatoblastoma presents with elevation of what serum marker?

Alpha-feto protein

18

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

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

19

Describe the stages and survival of hepatoblastoma.

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

20

The classic triad of choledochal cyst presentation is _____________.

jaundice, RUQ mass, and abdominal pain

21

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

What is perinatal biliary atresia – the most common type

22

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

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

23

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

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

24

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

mesenchymal hamartoma – a multicystic lesion with mature tissues

25

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

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

26

Idiopathic neonatal hepatitis has a ____________ prognosis.

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

27

_____________ can recapitulate many tissues, including bone.

Hepatoblastoma

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