Ped Liver disease [3]

Question 1

Normal bilirubin metabolism

Answer 1

mainly comes from hemoglobin turnover from heme

in the spleen: heme gets oxygenated and eventually converted to bilirubin
- water insoluble, hard to get rid over

Bilirubin is transferred to the liver into hepatocytes → enzymes convert it to water soluble form →
transfer to bile duct and duodenum

Question 2

Causes of neonatal cholestasis (neonatal jaundice)

Answer 2

infxn
meds
total parenteral nutrition
obstruction (congenital malform, biliary atresia)
metabolic diseases
hereditary hyperbilirubinemia
idiopathic neonatal hepatitis

Question 3

Physiologic jaundice

Answer 3

most infants affected with onset in first week of life
due to:
- increase RBC turnover
- immaturity of system for bilirubin conju
- deconjugating enzyme in breast milk
→ ALL LEAD TO UNCONJUGATED (INDIRECT) BILIRUBIN

most are benign and resolve in 10days to 1 mo.
some may need phototherapy to prevent kernicterus
- toxic accumulation of unconjugated bilirubin in neonatal brain

Question 4

Pathologic jaundice

Answer 4

onset in 1st 24 hours or >14 days after birth
(not seen in physiologic jaundice)

ie: hereditary hyperbilirubinemia

Question 5

Biliary atresia

Answer 5

obstruction of extrahepatic biliary tree →
CONJUGATED/DIRECT bilirubinemia

tx: kasai procedure (hepatoportoenterostomy)

Question 6

perinatal form of biliary atresia

Answer 6

more common than embryonic/fetal form where you have abnl development of biliary tree

Perinatal form: nl at birth, but has new onset and progressive jaundice at 1-6 weeks after birth →
PROGRESSIVE DESTRUCTION OF BILIARY TREE
- unknown etiology

Question 7

Choledochal cyst

Answer 7

congenital anomaly of intrahepatic/extrahepatic bile ducts → ductal dilation and bile stasis

Present at age 10 with classic triad

1. PAIN
2. JAUNDICE
3. RUQ MASS

Question 8

Crigler-Najjar syndrome

Answer 8

rare UNCONJUGATED HYPERBILIRUBINEMIA
Mutation in bilirubin UCT1A1, which normally conjugate bilirubin
Type I (AR): no functional enzymes → high bili levels in neonates → neurotoxicity (requires UGT1A1)
Type II (AD): decreased enzyme activity, less severe

Question 9

Gilbert Syndrome

Answer 9

Common UNCONJUGATED HYPERBILIRUBINEMIA (like C-N synd)
Reduced expression of UGT1A1

RECURRENT STRESS INDUCED HYPERBILIRUBINEMIA
- med students

Question 10

Conjugated hyperbilirubinemia

Answer 10

dubin-johnson syndrome
Rotor syndrome

• can conjugate bili just fine: excretion sucks

Question 11

Dubin johnson syndrome

Answer 11

hereditary defect in excretion of conj bili due to mut in MRP2
- stress

Question 12

Does embryonic or perinatal forms fof biliary atresia present with jaundice at birth?

Answer 12

embryonic

• abnl development of biliary tree
• perinatal presents 1-6 weeks after birth

Question 13

Malignant primary neoplasms in children

Answer 13

• hepatoblastoma (usually 5 yrs old)

Question 14

Hepatoblastoma

Answer 14

primary neoplasm in children
-90% presents b4 age 5
- 2M:1F
- NOT associated with underlying liver disease
(unlike most cases of hepatocellular carcinoma)

Question 15

Presentation of hepatoblastoma

Answer 15

anorexia
weight loss
n/v
pain
abdominal mass
90% HAVE MARKEDLY ELEVATED SERUM ALPHA FETOPROTEIN (AFP) LEVELS

Question 16

two syndromes that can have an increased incidence of hepatoblastoma

Answer 16

beckwith-wiedman syndrome

FAP (WNT/beta catenin mut)

Question 17

Stage of hepatoblastoma prognosis
Stage 1
Stage 2
Stage 3
Stage 4

Answer 17

Stage 1: 100% survival
- complete resection

Stage 2: 75% survival
- microscopic residual tumor

Stage 3: 65% survival
- gross residual tumor, lymph node +, tumor spill

Stage 4: 0-25% survival
-metastatic disease