Flashcards in EXAM #3: PEDIATRIC CHOLESTASIS Deck (41):
1
What lab is characteristic for pediatric cholestasis?
Elevated direct bilirubin
2
What are the etiologies of pediatric cholestasis?
1) Obstructive
2) Metabolic/ genetic
3) Infectious
3
What are the functions of bile?
1) Excretion of toxins
2) Modulation of cholesterol metabolism
3) Absorption of lipids and fat soluble vitamins
4
How does cholestasis present?
1) Jaundice/icterus (4-5 mg/dL)
2) Dark urine
3) Pruritus
4) RUQ pain (older kids)
5
What sign is suggestive for obstructive jaundice?
Acholic stool (gray-colored)
6
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*
7
What is the definition of a direct hyperbilirubinemia?
- Greater than 2mg/dL
- More than 20% of total
8
What is the obstructive pattern of cholestasis?
1) Elevated direct bilirubin
2) ALP, GGT
9
What type of hyperbilirubinemia is associated with physiologic/ neonatal jaundice?
Excess unconjugated bilirubin
10
What is breast-feeding jaundice?
- Mom is not producing much milk initially
- Caloric deficiency leads to jaundice
11
What is breast-milk jaundice?
- 2nd week of life
-
12
What should you do if a child is jaundiced for more than 2-3 weeks?
Order a direct bilirubin
13
What is Biliary Atresia?
Progressive inflammation of bile ducts in the first few weeks of life
14
How serious is Biliary Atresia?
V. serious, requires liver transplant
*Primary cause of pediatric death from liver disease*
15
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*
16
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
17
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*
18
What is typically required following the Kasai procedure for Biliary Atresia?
Liver transplant
19
What is the definition of choledocolithiasis?
Stone in common bile ducts
20
What is acalculous cholecystitis?
Cholecystitis (inflammation) without stone
21
How do gallstones and cholecystitis present in kids?
- Nausea and vomiting
- Jaundice
- RUQ pain
22
What is the treatment for gallstones/ cholecystitis in kids?
1) ERCP
2) Cholecystectomy
23
What is a choledochal cyst?
Cyst in the common bile duct
24
What is unique about the presentation of a choledochal cyst?
Palpable mass in the newborn
25
What is an important complication of a choledochal cyst?
Premalignant for cholangiocarcinoma
26
How is a choledochal cyst treated?
Roux-en Y choledochochojejunostomy
27
What is Alagille Syndrome?
- Autosomal dominant mutation in Jagged 1 gene/ Notch receptor
- Leads to progressive loss of interlobular bile ducts
28
How does Alagille Syndrome present?
Typically by 3 years of age:
- Cholestasis
- Pruritus
- Xanthomas
- Hepatomegaly
29
What anomalies are associated with Alagille Syndrome?
1) Facial changes
2) Peripheral pulmonic stenosis
3) Butterfly vertebrae
4) Posterior embryotoxon
5) Growth retardation
30
What is the normal function of Alpha 1 antitrypsin (A1AT)?
Inhibition of proteolytic/ protease enzymes
31
What is the normal phenotype of A1AT?
PiM
32
What is the most common phenotype of A1AT with lung and liver disease?
PiZZ
33
What is the definitive treatment for A1AT deficiency?
Liver transplant
34
What is TPN induced cholestasis?
Cholestasis caused by Total Parenteral Nutrition in the NICU
35
How is TPN cholestasis treated?
1) STOP TPN
2) Reduce copper and manganese in TPN
36
What is a cause of prolonged physiologic jaundice?
Congenital hypothyroidism
37
What can congenital hypothyroidism that goes undetected cause?
Permanent physical and mental retardation
*Thus, it is on the newborn screen*
38
What lab can tip you off to congenital panhypopiruitarism?
Normal GGT
39
What enzyme mutation is seen in Galactosemia?
Autosomal defect in Galactose-1-phoshpate UDP
40
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
41