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Flashcards in Peds liver disease Deck (31):
1

What is neonatal jaundice

yellow discoloration of tissues (PE: skin, sclerae, mucous membranes) due to abnormal deposition of bilirubin

2

Labs to test for neonatal jaundice

Unconjugated/indirect bilirubinemia, Conjugated/direct bilirubinemia

3

Bilirubin metabolism

Heme from erythrocytes are broken down by heme oxygenase and biliverdin reductase in mononuclear phagocytes into bilirubin > bilirubin-albumin complex enters blood > enter liver > hepatocytes breakdown bilirubin > enters bile duct and duodenum > removed in feces

4

Know the differential diagnosis of neonatal jaundice.

Physiologic jaundice*, Infection, Medication, Total parenteral nutrition, Obstruction* (Congenital malformations, Biliary atresia), Metabolic Disease*, Hereditary hyperbilirubinemia*, Idiopathic neonatal hepatitis*

5

What is physiologic jaundice

Most infants affected. Onset in first week of life (but not in 1st 24 hours). Increased unconjugated (indirect) bilirubin

6

Physiologic jaundice mechanisms

Increased RBC turnover, immaturity of system for bilirubin conjugation (bilirubin conjugation system isnt mature until 2 weeks) and/or deconjugating enzymes in breast milk.

7

Physiologic jaundice treatment

usually self limiting but phototherapy can be used to prevent kernicterus (toxic accumulation of unconjugated bilirubin in neonatal brain). Phototherapy transforms bilirubin into isomers, which can be excreted in bile and urine.

8

Idiopathic neonatal hepatitis

Elevated levels of conjugated bilirubin in neonate not caused by infection, metabolic dz, bile duct obstruction or meds

9

idiopathic neonatal hepatitis path findings

giant cell transformation

10

Time course and features of pathologic jaundice

Onset in 1st 24 hours or >14 days after birth. Very high total bilirubin and Increased direct bilirubin

11

List types of hereditary hyperbilirubinemias

Unconjugated: Crigler-Najjar syndrome, Gilbert syndrome. Conjugated: Dubin-Johnson Syndrome and Rotor syndrome

12

Crigler-Najjar syndrome genetics and pathophys

Mutation in bilirubin-UDP-glucuronosyltransferase (UGT1A1), which conjugates bilirubin. Type I (AR): no functional enzyme; require phototherapy/ transplantation (markedly elevated bilirubin levels in neonates result in neurotoxicity). Type II (AD): decreased enzyme activity; less severe

13

Gilbert syndrome genetics and pathophys

Variably reduced expression of UGT1A1; recurrent, stress-induced hyperbilirubinemia; common (5-10% of population)

14

Dubin-Johnson syndrome genetics and pathophys

Hereditary defect in excretion of conjugated bilirubin due to mutation in multi-drug resistance protein 2 (MRP2); variable hyperbilirubinemia, esp in setting of stress

15

Rotor syndrome genetics and pathophys

Exact biochemical defect unknown; variable hyperbilirubinemia, esp in setting of stress

16

Choledochal cyst

Congenital anomaly of intrahepatic/ extrahepatic bile ducts characterized by ductal dilation and bile stasis

17

Choledochal cyst presentation and diagnosis

–Classic triad (40%) : pain, jaundice (conjugated/direct bilirubinemia), RUQ mass. Diagnosis: imaging and surgical exploration

18

Choledochal cyst treatment and complications

Surgery. Complications if untreated: gallstones (stasis), cholangitis, stenosis/stricture, pancreatitis, obstructive biliary complications. If persists until adulthood, increased risk of cholangiocarcinoma

19

Biliary atresia

obstruction of extrahepatic biliary tree with elevated conjugated/direct bilirubinemia. Congenital/embryonic or perinatal

20

Embryonic/fetal biliary atresia presentation

Jaundice at birth, Abnormal development of biliary tree. Genetic abnormality; associated with other anomalies

21

Perinatal biliary atresia presentation, histopathology

Normal at birth; new onset, progressive jaundice 1-6 weeks after birth. No associated anomalies. Histopathology: progressive destruction of biliary tree. Etiology unknown

22

Post natal biliary atresia pathologic findings in liver and biliary tree

liver: Cholestasis in hepatocytes, canaliculi, and ducts (“bile plugs”). Reactive bile duct proliferation. Variable inflammation and fibrosis. Biliary tree: fibroinflammatory obliteration of biliary tree

23

Biliary atresia treatment

1. Kasai procedure: hepatoportoenterostomy- extrahepatic biliary system is excised and a loop of small bowel in connected to the hepatic hilum to allow for bile drainage. best before day 60. 2. Transplant

24

Metabolic storage diseases involving liver

Carb metabolism (glycogen storage dz, galactosemia, fructosemia), lysosomal storage dz (Niemann-Pick, Gaucher), amino acid metabolism, iron (hemochromatosis), copper (wilson dz)

25

List benign primary hepatic neoplasms

Mesenchymal hamartoma, Teratoma, Hepatocellular adenoma, Focal nodular hyperplasia

26

List malignant primary hepatic neoplasms

Hepatoblastoma (usually < 5 yrs old), Hepatocellular Carcinoma (usually > 5 yrs old), Undifferentiated/Embryonal Sarcoma

27

Hepatoblastoma presentation

–anorexia, weight loss, nausea, vomiting, pain; abdominal enlargement/mass; 90% have markedly elevated serum alpha-fetoprotein level (useful tumor marker)

28

hepatoblastoma pathophys

–Wnt/beta-catenin pathway activated in 80%

29

Syndromes associated with hepatoblastoma

Beckwith-Wiedemann Syndrome, Familial Adenomatous Polyposis (Wnt/beta-catenin mutations)

30

hepatoblastoma histology

Epithelial: fetal and ebryonic type differentiation. Mesenchymal: primitive mesenchyme, bone, cartilage, muscle. Mixed: epithelial and mesenchyme differentiation

31

Hepatoblastoma treatment

chemo, surgical resection, liver transplant if unresectable