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Flashcards in Peds liver disease Deck (31):

What is neonatal jaundice

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


Labs to test for neonatal jaundice

Unconjugated/indirect bilirubinemia, Conjugated/direct bilirubinemia


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


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*


What is physiologic jaundice

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


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.


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.


Idiopathic neonatal hepatitis

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


idiopathic neonatal hepatitis path findings

giant cell transformation


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


List types of hereditary hyperbilirubinemias

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


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


Gilbert syndrome genetics and pathophys

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


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


Rotor syndrome genetics and pathophys

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


Choledochal cyst

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


Choledochal cyst presentation and diagnosis

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


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


Biliary atresia

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


Embryonic/fetal biliary atresia presentation

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


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


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


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


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)


List benign primary hepatic neoplasms

Mesenchymal hamartoma, Teratoma, Hepatocellular adenoma, Focal nodular hyperplasia


List malignant primary hepatic neoplasms

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


Hepatoblastoma presentation

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


hepatoblastoma pathophys

–Wnt/beta-catenin pathway activated in 80%


Syndromes associated with hepatoblastoma

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


hepatoblastoma histology

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


Hepatoblastoma treatment

chemo, surgical resection, liver transplant if unresectable