Congenital/inherited liver disorders

Question 1

This enzyme is involved in excreting bilirubin, and is normally low at birth

Answer 1

Glucuronyl transferase

Question 2

When does glucuronyl transferase reach adult levels?

Answer 2

At 3-4 months

Question 3

Neonatal physiologic jaundice should normalize by this many days after birth

Answer 3

7-14

Question 4

Breastfeeding may exacerbate this condition, which is treated with blue lights

Answer 4

Neonatal physiologic jaundice

Question 5

Is Crigler-Najjar, type 1 or 2 lethal?

Answer 5

Type 1

Question 6

Is Crigler-Najjar, type 1 or 2 milder?

Answer 6

Type 2

Question 7

This condition is an autosomal recessive absence of glucuronyl transferase enzyme

Answer 7

Crigler-Naijar, type 1

Question 8

This condition is an autosomal recessive decrease of glucuronyl transferase enzyme

Answer 8

Crigler-Najjar, type 2

Question 9

What are the levels of bilirubin in Crigler-Najjar, type 1?

Answer 9

Elevated, > 25 mg/dl

Question 10

This is the lethal (perinatal period) form of glucuronyl transferase deficiency

Answer 10

Crigler-Najjar, type 1

Question 11

Jaundice that persists past 3 weeks from birth, with total bilirubin 1.5-2.0, and otherwise asymptomatic, indicates this condition

Answer 11

Crigler-Najjar, type 2

Question 12

This condition is a mild glucuronyl transferase deficiency that is asymptomatic lab abnormality

Answer 12

Gilbert syndrome

Question 13

Gilbert syndrome is a mild deficiency of this enzyme

Answer 13

Glucuronyl transferase

Question 14

This form of conjugated hyperbilirubinemia involves MRP-2, causing defective canalicular transport of dBilirubin

Answer 14

Dubin-Johnson syndrome

Question 15

Dubin-Johnson syndrome involves a mutation in this protein, which leads to defective canalicular transport of dBilirubin

Answer 15

MRP-2 (multidrug resistance protein)

Question 16

This form of conjugated hyperbilirubinemia is a deficiency of OATP1B1, leading to sinusoidal transport of conjugated bilirubin

Answer 16

Rotor syndrome

Question 17

Rotor syndrome is a deficiency of this, leading to sinusoidal transport of conjugated bilirubin

Answer 17

OATP1B1

Question 18

This form of conjugated hyperbilirubinemia may cause black liver from failure of canalicular transport
Often no visible gallbladder

Answer 18

Dubin-Johnson syndrome

Question 19

Dubin-Johnson syndrome may cause black liver from failure of this

Answer 19

Canalicular transport

Question 20

This form of conjugated hyperbilirubinemia has normal liver gross/micro appearance, is asymptomatic with no therapy needed

Answer 20

Rotor syndrome

Question 21

This is acquired neonatal extrahepatic bile duct obstruction

Answer 21

Biliary atresia

Question 22

Histology of this congenital condition will show large duct obstruction findings, and treatment is bypass and/or transplant
Can cause mild hepatomegaly (leading to cirrhosis in 6 months, and death by 2 years)

Answer 22

Biliary atresia

Question 23

This is a syndrome paucity of interlobular bile ducts
Results in progressive intrahepatic paucity of bile ducts

Answer 23

Alagille syndrome

Question 24

Symptoms of cholestasis, with pruritus, hypercholesterolemia, and eventual hepatic fibrosis are seen in this congenital condition

Answer 24

Alagille syndrome

Question 25

Butterfly shaped vertebrae are characteristic of this congenital condition

Answer 25

Alagille syndrome

Question 26

Eye and cardiac defects (pulmonary stenosis commonly), with triangular face and intellectual delay, are seen in this condition

Answer 26

Alagille syndrome

Question 27

This is a congenital dilated segment of bile ducts, which results in poor bile flow

Answer 27

Choledochal cyst

Question 28

What age does Choledochal "cyst" present?

Answer 28

Any age - neonatal to adult

Question 29

Patients with Choledochal cyst have a high rate of this neoplasm, which occurs by teenage age most often

Answer 29

Cholangiocarcinoma

Question 30

This condition is gross segmental dilatation of intrahepatic bile ducts

Answer 30

Caroli disease

Question 31

Patients with Caroli disease can have cholangitis, fever, and abdominal pain, as well as increased risk of this neoplasm

Answer 31

Cholangiocarcinoma

Question 32

Caroli disease is associated with this condition

Answer 32

Congenital hepatic fibrosis

Question 33

This congenital liver condition is associated with congenital hepatic fibrosis

Answer 33

Caroli disease