Pediatric Liver Disease

Question 1

LO1: DDX of neonatal jaundice (8)

Answer 1

1) Physiologic jaundice -most common
2) Infxn -sepsis
3) Medication
4) Total parenteral nutrition - common w/ necrotizing eneterocolitis
5) Obstruction
a) Congenital malform
b) biliary atresia
6) Metabolic Dz
7) Hereditary hyperbilirubinemia
8) Idiopathic neonatal hepatitis

Question 2

LO2: Presentation of biliary atresia - Embyronic Form (3)

Answer 2

1) Jaundice at birth
2) Abnl development of biliary tree
3) Genetic abnl-associated w/ other anomaly

Question 3

LO2: Dx of biliary atresia (path) - Liver (3), Biliary remnant (1)

Answer 3

Liver
1) Cholestasis in hepatocytes, canaliculi, and ducts (bile plugs)
2) reactive bile duct proliferation
3) Variable inflamm and fibrosis
Biliary remnant
1) Fibroinflamm obliteration of biliary tree

Question 4

LO2: Tx of biliary atresia

Answer 4

1) Kasai Procedure - Hepatoportoenterostomy -better b4 day 60 of life
2) Transplant - BA most common indication for Tx in peds
3) No non-surg tx

Question 5

LO3: Genetic Defects of Hereditary Unconjugated Hyperbilirubinemias (2)

Answer 5

1) Crigler-Najjar Syndrome - Mutation in UGT1A10

2) Gilbert Syndrome - Reduced expression of UGT1A1

Question 6

LO5: Most common benign Primary hepatic neoplasms in peds (4)

Answer 6

1) Mesenchymal hamartoma
2) Teratoma -commonly ovary and testes
3) hepatocellular adenoma
4) focal nodular hyperplasia

Question 7

LO5: Most common malignant primary hepatic neoplasms in peds (3)

Answer 7

1) Hepatoblastoma (<5y/o)
2) Hepatocellular Carcinoma (>5y/o)
3) Undifferentiated/embryonal Sarcoma

Question 8

LO6: Presentation of Hepatoblastoma (6)

Answer 8

1) anorexia
2) wt loss
3) N/V
4) pn
5) abd mass
6) 90% -elevated serum alpha fetoprotein

Question 9

LO6: Dx of hepatoblastoma

4

Answer 9

1) Pathobio - 1) Wnt/B-catenin pathway in 80%
Histo
2) Epithelial - fetal and embryonal-type differentiation most common
3) Mesenchymal - primitive mesenchyme, bone, cartilage, muscle
4) Mixed -epithelial and mesenchymal differentiation

Question 10

LO6: Tx of hepatoblastoma

Answer 10

1) Chemo and surgical resection
2) Liver transplant -unresectable w/o metastasis
3) Overall survival - 65-70%
4) Stage at time of resection is the most important prog factor

Question 11

Physiological Jaundice

Answer 11

1) w/in 1st week of life

2) Increased unconjugated bili

Question 12

Physiologic Jaundice mechanism (3)

Answer 12

1) Increased RBC turnover
2) Immaturity to bili conjugation
3) Deconjugating enzymes in breast milk

Question 13

LO3: Crigler-Najjar Syndrome (unconjugated)

Answer 13

1) Mutation in bilirubin-UDP-glucuronosyltransferase (UGT1A10, which conjugates bilirubin)
2) Type I -AR
3) Type II- AD. less severe

Question 14

LO3: Genetic Defects of Hereditary Conjugated Hyperbilirubinemias (2)

Answer 14

1) Dubin-Johnson Syndrome-Mutation in MRP2

2) Rotor Syndrome - defect unknown

Question 15

LO3: Gilbert Syndrome (2) (unconjugated)

Answer 15

1) Reduced expression of UGT1A1 - recurret stress induced hyperbilirubinemia
2) common

Question 16

LO3: Dubin Johnson Syndrome (conjugated)

Answer 16

Hereditary defect in conjugated bili excretion due to MRP2 mutation

Question 17

LO3: Rotor Syndrome (conjugated)

Answer 17

biochem defect unknown

variable hyperbilirubinemia in setting of stress.

Question 18

What is biliary atresia?

Answer 18

1) Obstruction of extrahepatic biliary tree
2) Direct bilirubinemia
3) 2 forms
a) Embryonic/fetal form (congenital)
b) Perinatal form (65-90%)

Question 19

LO2: Presentation of biliary atresia - Perinatal Form (4)

Answer 19

1) NL at birth, progressive jaundice 1-6 weeks after birth
2) No associate anomalies
3) Histopath - Progressive destruction of biliary tree
4) Etiology unknown

Question 20

What syndromes have higher incidence of hepatoblastoma? (2)

Answer 20

1) Beckwith-Wiedmann Syndrome

2) FAP - Wnt/B-catenin pathway