pediatric liver disease

Question 1

1. State the differential diagnosis of neonatal jaundice.

Answer 1

*physiological jaundice
infection
medication
total parenteral nutrition
*obstruction
-congenital malformations
-biliary atresia
*metabolic disease
*hereditary hyperbilirubinemia
*ideopathic neonatal hepatitis

Question 2

2. Describe the presentation, diagnosis and therapy of biliary atresia.

Answer 2

biliary atresia

• high incidence, obstruction of biliary tree
• conjugated/direct bilirubinemia
• two forms
• -embryonic- less common- genetic/congenital
• -perinatal- more common–idiopathic

liver-bile plugs in hepatocytes, canaliculi, and ducts
-reactive bile duct proliferation, variable inflammation and fibrosis
biliary remnant-fibroinflammatory obliteration of biliary tree
Tx-kasai procedure (make neo-bile duct out of proximal small intestine) before 3 months or transplant

Question 3

3. Describe the genetic defects in and clinical consequences of hereditary hyperbilirubinemias.

Answer 3

unconjugated
- crigler-najar
-mut in bilirubin-UDP-glucoronosyltransferase (UGT1A1)
- type 1 no functional enzyme–> trnsplanation or phototherapy
- type 2 decreased enzyme activity, less severe
- gilbert- common 5-10% of population, UGT1A1 under expression
conjugated
- dubin-johnson syndrome- mut in MRP2 gene
- Rotor Syndrome- unknown

Question 4

4. Recognize the most common benign and malignant primary hepatic neoplasms in the pediatric population.

Answer 4

Benign

• mesenchymal hamartoma
• teratoma
• hepatocellular adenoma
• focal nodular hyperplasia

Malignant

• hepatoblastoma (usually 5 yrs old)
• undifferentiated sarcoma

Question 5

5. Describe the presentation, diagnosis and therapy of hepatoblastoma.

Answer 5

more male
not associated with underlying liver disease
presents- anorexia, wt loss, nausea, vomiting, pain, abdominal mass, ^serum alpha fetoprotein level
wnt beta catenin pathway
associated with Beckwith-wiedemann Syndrome
and FAP

Dx- fetal type epithelial differentitation most common
bone, cartilege, muscle mesenchymal differentitation
or mixed

Tx- chemo and surgical resection, liver transplant if there are no mets, survival 65-70%

Question 6

physiological jaundice

Answer 6

normal in newborn period, after first day though (indirect bilirubin)
-rbc turn over, immature system for bilirubin conjugation, decongugating enzymes in breast milk, benign if continued use photo therapy

Question 7

choledochal cyst

Answer 7

-usually by age 10,
-classic triad of pain, jaundice, and RUQ mass
Dx-imaging, surgical exploration
Tx-surgery
Complications- gallstones, cholangitis, stenosis/stricture, pancreatitis, obstructive biliary complications, if persists into adulthood–> increased risk of cholangiocarcinoma

Question 8

ideopathic neonatal hepatitis

Answer 8

giant cell transformation

Question 9

Metabolic storage diseases

Answer 9

can cause liver damage, liver biopsy can take to right etiology

Question 10

***stage at time of resection is most important prognostic factor

Answer 10

stage 1 100%- complete resection
stage 2 75-80%
stage 3 65%
stage 4 0-27% metastatic disease