Pediatric Liver Disease Flashcards
Heme gets metabolized to ____________, which itself gets metabolized to ______________.
biliverdin (by heme oxygenase); bilirubin (by biliverdin reductase)
In the liver, unconjugated/indirect bilirubin gets metabolized to ______________.
conjugated/direct bilirubin
The most common cause of neonatal jaundice is ___________.
physiologic
True or false: physiologic neonatal jaundice usually presents at birth.
False. It usually presents 24 hours after birth.
What are the three reasons that physiologic neonatal jaundice occurs?
(1) Increased RBC turnover
(2) Immature liver conjugation system
(3) Deconjugating enzymes in breast milk
Physiologic neonatal jaundice usually resolves in ____________.
10 days to 1 month –sometimes requires phototherapy
Physiologic neonatal jaundice usually proceeds from ____________.
head to feet
What are the clinical characteristics that suggest pathologic neonatal jaundice?
- Present in the first 24 hours or after the first 14 days
- Very high indirect bilirubin
- Very high total bilirubin
- Rapid increase in bilirubin
What are the kinds of hereditary hyperbilirubinemia?
Unconjugated bilirubinemia:
- Crigler-Najjar syndrome: mutation in the conjugating glucuronyl enzyme (AR form is severe; AD form is less severe)
- Gilbert syndrome: variable expression of UGT, with stress-induced bilirubinemia being the main symptom
Conjugated bilirubinemia:
- Dubin-Johnson syndrome: defect in the protein responsible for excretion of conjugated bilirubin
- Rotor syndrome: unknown
Choledochal cysts present by age ________, though they are present at birth. What are the presenting symptoms?
10; fever, RUQ mass, and pain
What is the incidence of biliary atresia? How does it present?
1/10,000; presents with high levels of conjugated bilirubin
Perinatal biliary atresia is due to ____________.
trick question… the cause is not known
Biliary atresia presents with __________________.
liver inflammation and fibrosis
Hepatoportoenterostomy works (the Kasai procedure) if performed before age________.
2 months (hence, the diagnosis of biliary atresia is urgently needed)
The hallmark of idiopathic neonatal hepatitis is ___________.
giant-cell transformation
The most common malignant hepatic neoplasm in children is ______________.
hepatoblastoma
Hepatoblastoma presents with elevation of what serum marker?
Alpha-feto protein
Those with FAP have an increased risk of what hepatic neoplasm?
Hepatoblastoma (which also arises from defects in the Wnt/beta-catenin pathway)
Describe the stages and survival of hepatoblastoma.
1: complete resection possible; 100% survival
2: microscopic residual tumor; 75% survival
3: positive lymph nodes and residual tumor; 65% survival
4: metastatic; 27% survival
The classic triad of choledochal cyst presentation is _____________.
jaundice, RUQ mass, and abdominal pain
This kind of biliary atresia presents with a normal extrahepatic bile duct which degenerates after birth.
What is perinatal biliary atresia –the most common type
A baby presents to you with extremely high levels of unconjugated bilirubin. What enzyme are they likely deficient in?
UGT-1A1 (UDP-glucuronyltransferase-1A1)
A patient with a black liver on autopsy most likely had a defect in which protein?
Multidrug-resistant protein 2 (this describes Dubin-Johnson syndrome)
There is a benign liver lesion that typically presents in those younger than age 2: ________________.
mesenchymal hamartoma –a multicystic lesion with mature tissues
What genetic syndromes presents with increased risk of a hepatic neoplasm that may have elevated levels of beta-hCG?
Beckwith-Wiedemann syndrome and FAP (both of which increase risk for hepatoblastoma)
Idiopathic neonatal hepatitis has a ____________ prognosis.
trick question… the sporadic kind has a good prognosis and the familial kind has a bad prognosis
_____________ can recapitulate many tissues, including bone.
Hepatoblastoma
