pediatric liver disease Flashcards
liver diseases that can present in kids and adults
non-alcoholic fatty liver disease HBV, HCV (vertically acquired) autoimmune hepatitis/ primary sclerosing cholangitis Wilson disease (older kids) Alpha-1-antitrypsin deficiency
most common cause of neonatal jaundice
physiologic jaundice
labs in physiologic jaundice
increased unconjugated (indirect) bilirubin
unconjugated jaundice classifications
hemolytic (intrinsic: sickle cell; extrinsic: Rh disease)
non-hemolytic
conjugated jaundice classifications
hepatic, post-hepatic
Crigler-Najjar syndrome
mutation in UGT1A1
Type 1 = AR, no functional enzyme, more severe
Type 2 = AD, decreased enzyme activity
Gilbert syndrome
variable expression of UGT1A1 –> recurrent, stress-induced hyperbilirubinemia
Dubin-Johnson syndrome
hereditary (MRP2) defect in excretion of conjugated bilirubin; variable (stress) hyperbilirubinemia
Rotor syndrome
stress hyperbilirubinemia of unknown genetic etiology
10yo presents with pain, jaundice (conjugated/direct), RUQ mass
choledochal cyst –> obstructive jaundice
complications of untreated choledochal cyst
gallstones, cholangitis, stenosis/stricture, pancreatitis, obstructive biliary complications
into adulthood –> risk of cholangiocarcinoma
newborn presents with jaundice at birth, elevated conjugated/direct bilirubin
embryonic/fetal form biliary atresia
infant presents with PROGRESSIVE jaundice with elevated conjugated/direct bilirubin. Normal at birth, no other anomalies
perinatal biliary atresia
treatment of biliary atresia
Kasai procedure –> connect to small bowel to drain bile
transplantation (most common indication for transplantation in peds)
histology: giant cell transformation
neonatal hepatitis
