Ped Liver disease [3] Flashcards Preview

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Flashcards in Ped Liver disease [3] Deck (17):
1

Normal bilirubin metabolism

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

2

Causes of neonatal cholestasis (neonatal jaundice)

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

3

Physiologic jaundice

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

4

Pathologic jaundice

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

ie: hereditary hyperbilirubinemia

5

Biliary atresia

obstruction of extrahepatic biliary tree →
CONJUGATED/DIRECT bilirubinemia

tx: kasai procedure (hepatoportoenterostomy)

6

perinatal form of biliary atresia

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

7

Choledochal cyst

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

8

Crigler-Najjar syndrome

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

9

Gilbert Syndrome

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

RECURRENT STRESS INDUCED HYPERBILIRUBINEMIA
- med students

10

Conjugated hyperbilirubinemia

dubin-johnson syndrome
Rotor syndrome

- can conjugate bili just fine: excretion sucks

11

Dubin johnson syndrome

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

12

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

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

13

Malignant primary neoplasms in children

- hepatoblastoma (usually 5 yrs old)

14

Hepatoblastoma

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

15

Presentation of hepatoblastoma

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

16

two syndromes that can have an increased incidence of hepatoblastoma

beckwith-wiedman syndrome
FAP (WNT/beta catenin mut)

17

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

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