Peds Hepatobiliary Dz

Question 1

Adult dz also in kids

Answer 1

Non-EtOH fatty lver, HBV/HCV (usu from mother), Autoimmune hep/PSC
Wilson, A1AT

Question 2

Normal bilirubin metabolism

Answer 2

monocytes of spleen break down RBC (bilirubin is byproduct)
carried with albumin to liver and cojugsted to be more hydrophilic
to bile duct and lower GI ti be excreted in stool or reabsorbed

Question 3

Hepatic agenesis & biliary tree defect

Answer 3

Hepatic agenesis: rare and incompatible with life

Biliary tree defect: most common is choledochal cyst (dliation of BT)

Question 4

Neonatal Jaundice

Answer 4

Abnormal deposition of bilirubin
Normal if between 24 hrs and 2 wks, path at birth and after 2 wks
Unconjugated/indirect vs conjugted/direct
Pre-hepatic/hepatic/post-hepatic

Question 5

Physiological jaundice

Answer 5

increased RBC turnover with immature conjugating system (most infants get it)
onset: 1st week but NOT first 24 hrs, and not after 14 d
Diagnx: incr unconjugated/indirect bili
Treat: usu benign, resolves 10-30 days, PHOTOTHERAPY to prevent kernicterus (toxic accumulation of unconjugated bili in brain - LIGHT photoisomerizes bili to make more water osuble then excreted)

Question 6

Pathological Jaundice

Answer 6

Rapid incr in total bibli, high total bili
in first 24 hr, or after 14 d
Unconjugated: hemolytic, or non-hemolytic
Conjugated: hepatic vs non hepatic

Question 7

Hereditary Hyperbilirubinemia

Answer 7

Unconjugated: CRIGLER NAJJAR syndrome, UGT1A1 mutation (bili conj eznyme) - Type 1 AR no enzyme, type 2 AD decr enzyme
GILBERT SYNDROME: stress induced variable UGT1A! expression
Conjugated: Dubin-Johnson: bili excretion defect MRP2 mutation, stress induced, also ROTOR syndrome (stress induced)
Treat: PHOTOTHERAPY

Question 8

Obstruction

Choledochal Cyst

Answer 8

By age 10
TRIAD: pain, jaundice (direct), RUQ mass
Complications if untreated (gall, panc, + risk of carcinoma)
Diagnx : H&P, imaging, surgical exploration
Treat: Surgery

Question 9

Obstruction

Biliary atresia

Answer 9

Obstruction of extrahepatic biliary tree
Embryonic (congenital, jaundice at birth) vs Perinatal (more common, acquired, normal at birth)
Diagnx: definitive: CHOLANGIOGRAM
Treat: KASAI PROCEDURE (hepatoportoenterostomy) better prognosis if before 60 days, Transplant (BA most common cause in kids), no non-surgical options

Question 10

Idiopathic Neonatal Hepatitis

Answer 10

Diagnosis of exclusion, 80-90% sporadic
Pres: hepatomegaly and jaundice
Diagnx: CONJUGATED hyperbili, GIANT CELL TRANSFORMATION
Treat: Phototherapy

Question 11

TPN Hepatopathy

Answer 11

on TPN for ling time
Pres: Jaundice
Diagnx: biopsy similar to BA
Treat: discontinue TPN

Question 12

PRIMARY HEPATIC NEOPLASMS

Mesenchymal Hamartoma

Answer 12

BENIGN, 85% pres at

Question 13

PRIMARY HEPATIC NEOPLASMS

Hepatoblastoma

Answer 13

MALIGNANT, 90% before 5 yo, M>F, 2:1
NOT assoc with underlying liver dz
WNT/Beta-Catenin mutations in 80%
90% elevated serum ALPHAFETOPROTEIN (AFP = tumor marker)
beta-HCG may be elevated
Treat: chemo, surgical resection, transplant if unresectable, staging important prognostic factor (1 =~ 100% survial, 2 =75-80%, 3 =????, 4 = 0-27%)

Question 14

PRIMARY HEPATIC NEOPLASMS

Hepatocellular Carcinoma

Answer 14

MALIGNANT, onset > 5yo, WITH CHRONIC LIVER DZ

ELEVATED serum AFP

Question 15

PRIMARY HEPATIC NEOPLASMS

Undifferentiated/embryonal sarcoma

Answer 15

MALIGNANT, may arise WITH mesenchymal hamartoma

NORMAL AFP, misleading cystic appearance on imaging

Question 16

Liver in Genetic Dz

Answer 16

1) A1AT dz
2) CF (hepatic lesion is Focal Biliary Cirrhosis (patchy areas of fibrosis with bile duct prolif) ALSO IN CF: centrilobular steatosis, variable chronic infl

Question 17

Liver in Metabolic Dz

Answer 17

Fe and Cu (heachromatosis/Wilson)
Carbs (galactosemia, fructosemia)
Lysosomal storage (Wolman, Niemann-Pick, Gaucher, Farber and Fabry)
Glycogen storage (abnormal accumulation of glycogen in hepatocytes and other organs (liver it ypes, 1,2,4,6,9)
Defects in fatty acid oxidation ( carnitine deficiency, acyl-CA-dehydrog defects) - can resemble Reye syndrome –> rapid childhood death form seeminlgy innocuous febrile dz