Pediatric Liver Disease Flashcards
what is Physiologic jaundice
Increased unconjugated (indirect) bilirubin
Onset in first week of life (but not in 1st 24 hours)
Most infants affected
what are 3 mechanisms that cause Physiologic Jaundice
Increased red blood cell turnover
Immaturity of system for bilirubin conjugation
Deconjugating enzymes in breast milk
what is kernicterus
toxic accumulation of unconjugated bilirubin in neonatal brain
how long can you expect physiologic jaundice to resolve
10 days to 1 month
how does phototherapy work?
converts bilirubin into photoisomers and oxidation products that can be excreted in the urine.
describe pathologic jaundice
Onset in 1st 24 hours or >14 days after birth
Rapid increase in total bilirubin
Very high total bilirubin
Increased direct bilirubin
name the 2 Unconjugated hyperbilirubinemias
Crigler-Najjar Syndrome
Gilbert syndrome
name the 2 conjugated hyperbilirubinemias
Dubin-Johnson syndrome
Rotor Syndrome
describe the difference between conjugated vs unconjugated bilirubin
bilirubin is conjugated to glucuronate by glucuronyl transferase in the liver. Conjugated (direct) bilirubin is excreted into bile.
what is Crigler-Najjar Syndrome
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
what is gilbert syndrome
Variably reduced expression of UGT1A1; recurrent, stress-induced hyperbilirubinemia; common (5-10% of population)
what is the pathophys of Dubin-Johnson Syndrome
Hereditary defect in excretion of conjugated bilirubin due to mutation in multi-drug resistance protein 2 (MRP2); variable hyperbilirubinemia, esp in setting of stress
what is the pathophysiology of rotor syndrome
Exact biochemical defect unknown; variable hyperbilirubinemia, esp in setting of stress
what is a choledochal cyst
Congenital anomaly of intrahepatic/ extrahepatic bile ducts characterized by ductal dilation and bile stasis
what are the 2 forms of Biliary Atresia and which one is more common
Embryonic/fetal form: 10-35% (jaundice at birth)
Perinatal form: 65-90% (Normal at birth; new onset, progressive jaundice 1-6 weeks after birth)
In Biliary Atresia:, what are 3 Pathologic findings (post-natal form) in the liver
1) Cholestasis in hepatocytes, canaliculi, and ducts (“bile plugs”)
2) Reactive bile duct proliferation
3) Variable inflammation and fibrosis
Fibroinflammatory obliteration of biliary tree
what is the treatment for Biliary Atresia
1)“Kasai Procedure”, Hepatoportoenterostomy
Better prognosis if performed before day of life 60
2)Transplantation
BA is most common indication for transplantation in pediatric age group
describe what happens in a kasai procedure (Hepatoportoenterostomy)
defective biliary tree removed -> take a loop of intestine and hook it up to the porta hepatis to make a pseudo drainage system
25-40% of cases of neonatal cholestasis is classified as
Idiopathic Neonatal Hepatitis
“giant cell transformation” on histology is a pathologic finding that is a hallmark of what disease?
Neonatal Hepatitis
what is the clinical presentation of Hepatoblastoma
anorexia, weight loss, nausea, vomiting, pain; abdominal enlargement/mass; 90% have markedly elevated serum alpha-fetoprotein level (useful tumor marker)
Beckwith-Wiedemann Syndrome and
Familial Adenomatous Polyposis (Wnt/beta-catenin mutations) increase the incidence of ______
Hepatoblastoma
what is the tx of hepatoblastoma
Chemotherapy and surgical resection
what is the most important prognostic factor of hepatoblastoma
STAGE of cancer at time of resection
what are the malignant hepatic cancers in childeren
Hepatoblastoma (usually < 5 yrs old)
Hepatocellular Carcinoma (usually > 5 yrs old)
Undifferentiated/Embryonal Sarcoma
