Pediatric Cholestasis

Question 1

What type of bilirubin is elevated in cholestasis?

Answer 1

Direct

Question 2

What are the usual etiologies of cholestasis?

Answer 2

Obstructive
Metabolic/genetic
Infx

Question 3

What is the enzyme that takes Hene and converts it to biliverdin? Bilirubin?

Answer 3

heme oxygenase, then biliverdin reductase

Question 4

Unconjugated bili binds to what?

Answer 4

Albumin

Question 5

What is the signal for the bladder to contract?

Answer 5

CCK

Question 6

What happens to conjugated bili in the intestines?

Answer 6

Converted into urobilinogen by intestinal flora, and then secreted by kidneys

Question 7

What is the structure through which bile and pancreatic secretions pas through prior to passing through to the duodenum?

Answer 7

Ampulla of Vater

Question 8

What are the components of bile?

Answer 8

Bili
Cholesterol/phospholipids
Bile pigments/acids

Question 9

What is the function of bile?

Answer 9

Excreting toxins

Modulate cholesterol

Question 10

What are the ssx of cholestasis in peds?

Answer 10

poor feeding/weight gain

Irritability

Question 11

Acholic bile suggests what?

Answer 11

Obstruction

Question 12

What are the congenital ssx?

Answer 12

Microcephaly
Growth restriction
Low platelets

Question 13

What is the normal range of direct bilirubin?

Answer 13

Greaters than 2 mg/dL

Question 14

What are the labs like in cholestasis/obstructive pattern of cholestasis? (3)

Answer 14

Elevated alk phos
Elevated direct bili
Elevated GGT

Question 15

What are the labs like in non-cholestatic/hepatocellular pattern of cholestasis? (2)

Answer 15

AST/ALT elevation

Direct/indirect bili

Question 16

What fraction of newborn jaundice is physiologic?

Answer 16

2/3

Question 17

In newborn jaundice, what type of bili is elevated?

Answer 17

Indirect

Question 18

How long should newborn jaundice last? If it lasts longer than this, what should you suspect?

Answer 18

Two weeks

Suspect cholestasis

Question 19

What prolongs neonatal jaundice? (2)

Answer 19

Breast milk
Prematurity
Poor oral intake

Question 20

What are the characteristics of premature neonatal jaundice?

Answer 20

Peaks later, lasts longer

Question 21

What are the ssx of biliary atresia? (3)

Answer 21

Cholestatic jaundice
Hepatomegaly
Acholic stools

Question 22

What is the cause of biliary atresia?

Answer 22

Progressive inflammatory destruction of bile ducts

Question 23

When does biliary atresia usually present?

Answer 23

50% in the first few weeks

Question 24

What are the two types of biliary atresia? Describe each.

Answer 24

Perinatal/acquired (normal birth o/w, then recurs)

Embryonic (cholestatic jaundice at birth, w/o jaundice free interval)

Question 25

What is the single, most useful test to diagnose biliary atresia?

Answer 25

Bx

Question 26

How do you confirm the diagnosis of biliary atresia?

Answer 26

Laparotomy and intraoperative cholangiography

Question 27

What is the treatment for biliary atresia?

Answer 27

Kasai procedure (hook up small intestines to atretic gallbladder

Question 28

What is the prognosis for biliary atresia?

Answer 28

72% survive 10 years.

Question 29

What is the difference between cholelithiasis, cholecystitis, and choledocolithiasis?

Answer 29

``` Lithiasis = gallstones Cholecystitis = Inflamed gallbladder Choledocolithaiasis = gallstones in the duct ```

Question 30

What are ssx of cholelithiasis?

Answer 30

n/v Jaundice RUQ pain

Question 31

What is the prognosis for cholelithiasis in infants?

Answer 31

Most pass spontaneously

Question 32

What are the complications with cholelithiasis?

Answer 32

Pancreatitis Ascending cholangitis Cholecystitis

Question 33

What is the treatment for cholelithaisis?

Answer 33

ERCP and cholecystectomy

Question 34

What are choledochal cysts?

Answer 34

Congenital cysts that cause dilation of the biliary tree and CBD

Question 35

What are the ssx of choledochal cysts?

Answer 35

Usual cholestatic lab pattern, + palpable mass in a newborn

Question 36

What are the complications of choledochal cysts?

Answer 36

Premalignant (cholangiocarcinoma)

Question 37

What is the treatment for choledochal cysts?

Answer 37

surgical -roux-en-y choledochojejunostomy

Question 38

What is Alagille syndrome?

Answer 38

AD familial intrahepatic cholestasis, caused by a mutation in jagged 1 gene

Question 39

What causes the cholestasis in Alagille syndrome?

Answer 39

Paucity of interlobular bile ducts

Question 40

What is the usual presentation of Alagille syndrome?

Answer 40

Cholestasis Pruritis by 6 mo Xanthomas

Question 41

What are the face findings with Alagille syndrome?

Answer 41

Prominent forehead, deep set eyes, small pointed chin

Question 42

What are the CV findings with Alagille syndrome?

Answer 42

Peripheral pulmonic stenosis

Question 43

What are the vertebral findings with Alagille syndrome?

Answer 43

Butterfly vertebrae

Question 44

What are the eye findings with Alagille syndrome?

Answer 44

Posterior embryotoxon

Question 45

What percent of kid with Alagille syndrome have growth retardation?

Answer 45

50%

Question 46

What is the prognosis for Alagille syndrome?

Answer 46

Usually die around 20s d/t cardiac diseae

Question 47

What is the treatment for Alagille syndrome?

Answer 47

Liver transplant

Question 48

What is the genetic mutation in A1ATD?

Answer 48

PiZ and PiS

Question 49

What is the stain that is used to diagnose A1ATD?

Answer 49

PAS positive

Question 50

What are the ssx of A1ATD?

Answer 50

Liver and lung issues. May have cirrhosis in the first few months of life

Question 51

What is the treatment for A1ATD?

Answer 51

Liver transplant

Question 52

Which phenotype of A1ATD most commonly causes COPD?

Answer 52

ZZ phenotype

Question 53

What is PFIC 1-3?

Answer 53

``` 1 = ATP issue 2 = bili transporter 3 = MDR3 ```

Question 54

What is benign recurrent intrahepatic cholestasis?

Answer 54

Mutations in FIC1 or BSEP,

Question 55

What is Dubin-Johnson syndrome?

Answer 55

Defect in MDR2

Question 56

What is the treatment for benign recurrent intrahepatic cholestasis?

Answer 56

urso

Question 57

How does TPN cause cholestasis?

Answer 57

IV lipids/phytosterols via regulation of BSEP

Question 58

What is association of congenital hypothyroidism with gallbladder issues?

Answer 58

Prolonged physiologic jaundice,

Question 59

What are the effects of congenital hypothyroidism?

Answer 59

Permanent MR

Question 60

What is congenital panhypopituitarism?

Answer 60

Cortisol, CH, thyroid hormone promote bile formation and secretion

Question 61

What is the GGT like in congenital panhypopituitarism?

Answer 61

normal

Question 62

What are the ssx of congential panhypopituitarism?

Answer 62

UTI and sepsis

Question 63

What is the cause of galactosemia? Ssx? Treatment?

Answer 63

AR deficiency in galactose-1-phosphate Uridyl transferase. Liver injury, HSM, hypoglycemia Stopping lactose

Question 64

What type of fats do not need the biliary system?

Answer 64

MCFAs

Question 65

What is the treatment for chronic cholestasis?

Answer 65

ADEK supplementation