EXAM #3: PEDIATRIC CHOLESTASIS

Question 1

What lab is characteristic for pediatric cholestasis?

Answer 1

Elevated direct bilirubin

Question 2

What are the etiologies of pediatric cholestasis?

Answer 2

1) Obstructive
2) Metabolic/ genetic
3) Infectious

Question 3

What are the functions of bile?

Answer 3

1) Excretion of toxins
2) Modulation of cholesterol metabolism
3) Absorption of lipids and fat soluble vitamins

Question 4

How does cholestasis present?

Answer 4

1) Jaundice/icterus (4-5 mg/dL)
2) Dark urine
3) Pruritus
4) RUQ pain (older kids)

Question 5

What sign is suggestive for obstructive jaundice?

Answer 5

Acholic stool (gray-colored)

Question 6

How should you work-up a child with jaundice?

Answer 6

Order:

1) Bilirubin
2) ALP
3) GGT

If older than 2 weeks, get a direct bilirubin in addition to total

Question 7

What is the definition of a direct hyperbilirubinemia?

Answer 7

• Greater than 2mg/dL

- More than 20% of total

Question 8

What is the obstructive pattern of cholestasis?

Answer 8

1) Elevated direct bilirubin

2) ALP, GGT

Question 9

What type of hyperbilirubinemia is associated with physiologic/ neonatal jaundice?

Answer 9

Excess unconjugated bilirubin

Question 10

What is breast-feeding jaundice?

Answer 10

• Mom is not producing much milk initially

- Caloric deficiency leads to jaundice

Question 11

What is breast-milk jaundice?

Answer 11

• 2nd week of life

-

Question 12

What should you do if a child is jaundiced for more than 2-3 weeks?

Answer 12

Order a direct bilirubin

Question 13

What is Biliary Atresia?

Answer 13

Progressive inflammation of bile ducts in the first few weeks of life

Question 14

How serious is Biliary Atresia?

Answer 14

V. serious, requires liver transplant

Primary cause of pediatric death from liver disease

Question 15

What are the two types of Biliary Atresia?

Answer 15

1) Perinatal/ acquired
2) Embryonic

If a child is jaundiced AT BIRTH it is a red flag

Question 16

What is the sequence of testing to diagnose Biliary Atresia?

Answer 16

1) Elevated direct bilirubin
2) Ultrasound
3) Biopsy

TO OR

4) Laparotomy
5) Intraoperative cholangiography

Question 17

How is Biliary Atresia initially managed in the OR?

Answer 17

Kasai procedure
- Connects the small intestine to liver

Note that this is more successful the quicker it is performed

Question 18

What is typically required following the Kasai procedure for Biliary Atresia?

Answer 18

Liver transplant

Question 19

What is the definition of choledocolithiasis?

Answer 19

Stone in common bile ducts

Question 20

What is acalculous cholecystitis?

Answer 20

Cholecystitis (inflammation) without stone

Question 21

How do gallstones and cholecystitis present in kids?

Answer 21

• Nausea and vomiting
• Jaundice
• RUQ pain

Question 22

What is the treatment for gallstones/ cholecystitis in kids?

Answer 22

1) ERCP

2) Cholecystectomy

Question 23

What is a choledochal cyst?

Answer 23

Cyst in the common bile duct

Question 24

What is unique about the presentation of a choledochal cyst?

Answer 24

Palpable mass in the newborn

Question 25

What is an important complication of a choledochal cyst?

Answer 25

Premalignant for cholangiocarcinoma

Question 26

How is a choledochal cyst treated?

Answer 26

Roux-en Y choledochochojejunostomy

Question 27

What is Alagille Syndrome?

Answer 27

- Autosomal dominant mutation in Jagged 1 gene/ Notch receptor - Leads to progressive loss of interlobular bile ducts

Question 28

How does Alagille Syndrome present?

Answer 28

Typically by 3 years of age: - Cholestasis - Pruritus - Xanthomas - Hepatomegaly

Question 29

What anomalies are associated with Alagille Syndrome?

Answer 29

1) Facial changes 2) Peripheral pulmonic stenosis 3) Butterfly vertebrae 4) Posterior embryotoxon 5) Growth retardation

Question 30

What is the normal function of Alpha 1 antitrypsin (A1AT)?

Answer 30

Inhibition of proteolytic/ protease enzymes

Question 31

What is the normal phenotype of A1AT?

Answer 31

PiM

Question 32

What is the most common phenotype of A1AT with lung and liver disease?

Answer 32

PiZZ

Question 33

What is the definitive treatment for A1AT deficiency?

Answer 33

Liver transplant

Question 34

What is TPN induced cholestasis?

Answer 34

Cholestasis caused by Total Parenteral Nutrition in the NICU

Question 35

How is TPN cholestasis treated?

Answer 35

1) STOP TPN | 2) Reduce copper and manganese in TPN

Question 36

What is a cause of prolonged physiologic jaundice?

Answer 36

Congenital hypothyroidism

Question 37

What can congenital hypothyroidism that goes undetected cause?

Answer 37

Permanent physical and mental retardation *Thus, it is on the newborn screen*

Question 38

What lab can tip you off to congenital panhypopiruitarism?

Answer 38

Normal GGT

Question 39

What enzyme mutation is seen in Galactosemia?

Answer 39

Autosomal defect in Galactose-1-phoshpate UDP

Question 40

What is important to remember about Galactosemia?

Answer 40

1) STOP giving Galactose i.e. Lactose 2) Remember this is can be FATAL in days 3) Is on the newborn screen

Question 41

What type of fats do NOT need the biliary system for metabolism?

Answer 41

Medium chain triglycerides