EXAM #3: PEDIATRIC CHOLESTASIS Flashcards
What lab is characteristic for pediatric cholestasis?
Elevated direct bilirubin
What are the etiologies of pediatric cholestasis?
1) Obstructive
2) Metabolic/ genetic
3) Infectious
What are the functions of bile?
1) Excretion of toxins
2) Modulation of cholesterol metabolism
3) Absorption of lipids and fat soluble vitamins
How does cholestasis present?
1) Jaundice/icterus (4-5 mg/dL)
2) Dark urine
3) Pruritus
4) RUQ pain (older kids)
What sign is suggestive for obstructive jaundice?
Acholic stool (gray-colored)
How should you work-up a child with jaundice?
Order:
1) Bilirubin
2) ALP
3) GGT
If older than 2 weeks, get a direct bilirubin in addition to total
What is the definition of a direct hyperbilirubinemia?
- Greater than 2mg/dL
- More than 20% of total
What is the obstructive pattern of cholestasis?
1) Elevated direct bilirubin
2) ALP, GGT
What type of hyperbilirubinemia is associated with physiologic/ neonatal jaundice?
Excess unconjugated bilirubin
What is breast-feeding jaundice?
- Mom is not producing much milk initially
- Caloric deficiency leads to jaundice
What is breast-milk jaundice?
- 2nd week of life
-
What should you do if a child is jaundiced for more than 2-3 weeks?
Order a direct bilirubin
What is Biliary Atresia?
Progressive inflammation of bile ducts in the first few weeks of life
How serious is Biliary Atresia?
V. serious, requires liver transplant
Primary cause of pediatric death from liver disease
What are the two types of Biliary Atresia?
1) Perinatal/ acquired
2) Embryonic
If a child is jaundiced AT BIRTH it is a red flag
What is the sequence of testing to diagnose Biliary Atresia?
1) Elevated direct bilirubin
2) Ultrasound
3) Biopsy
TO OR
4) Laparotomy
5) Intraoperative cholangiography
How is Biliary Atresia initially managed in the OR?
Kasai procedure
- Connects the small intestine to liver
Note that this is more successful the quicker it is performed
What is typically required following the Kasai procedure for Biliary Atresia?
Liver transplant
What is the definition of choledocolithiasis?
Stone in common bile ducts
What is acalculous cholecystitis?
Cholecystitis (inflammation) without stone
How do gallstones and cholecystitis present in kids?
- Nausea and vomiting
- Jaundice
- RUQ pain
What is the treatment for gallstones/ cholecystitis in kids?
1) ERCP
2) Cholecystectomy
What is a choledochal cyst?
Cyst in the common bile duct
What is unique about the presentation of a choledochal cyst?
Palpable mass in the newborn
What is an important complication of a choledochal cyst?
Premalignant for cholangiocarcinoma
How is a choledochal cyst treated?
Roux-en Y choledochochojejunostomy
What is Alagille Syndrome?
- Autosomal dominant mutation in Jagged 1 gene/ Notch receptor
- Leads to progressive loss of interlobular bile ducts
How does Alagille Syndrome present?
Typically by 3 years of age:
- Cholestasis
- Pruritus
- Xanthomas
- Hepatomegaly
What anomalies are associated with Alagille Syndrome?
1) Facial changes
2) Peripheral pulmonic stenosis
3) Butterfly vertebrae
4) Posterior embryotoxon
5) Growth retardation
What is the normal function of Alpha 1 antitrypsin (A1AT)?
Inhibition of proteolytic/ protease enzymes
What is the normal phenotype of A1AT?
PiM
What is the most common phenotype of A1AT with lung and liver disease?
PiZZ
What is the definitive treatment for A1AT deficiency?
Liver transplant
What is TPN induced cholestasis?
Cholestasis caused by Total Parenteral Nutrition in the NICU
How is TPN cholestasis treated?
1) STOP TPN
2) Reduce copper and manganese in TPN
What is a cause of prolonged physiologic jaundice?
Congenital hypothyroidism
What can congenital hypothyroidism that goes undetected cause?
Permanent physical and mental retardation
Thus, it is on the newborn screen
What lab can tip you off to congenital panhypopiruitarism?
Normal GGT
What enzyme mutation is seen in Galactosemia?
Autosomal defect in Galactose-1-phoshpate UDP
What is important to remember about Galactosemia?
1) STOP giving Galactose i.e. Lactose
2) Remember this is can be FATAL in days
3) Is on the newborn screen
What type of fats do NOT need the biliary system for metabolism?
Medium chain triglycerides
