Congenital/inherited liver disorders Flashcards
This enzyme is involved in excreting bilirubin, and is normally low at birth
Glucuronyl transferase
When does glucuronyl transferase reach adult levels?
At 3-4 months
Neonatal physiologic jaundice should normalize by this many days after birth
7-14
Breastfeeding may exacerbate this condition, which is treated with blue lights
Neonatal physiologic jaundice
Is Crigler-Najjar, type 1 or 2 lethal?
Type 1
Is Crigler-Najjar, type 1 or 2 milder?
Type 2
This condition is an autosomal recessive absence of glucuronyl transferase enzyme
Crigler-Naijar, type 1
This condition is an autosomal recessive decrease of glucuronyl transferase enzyme
Crigler-Najjar, type 2
What are the levels of bilirubin in Crigler-Najjar, type 1?
Elevated, > 25 mg/dl
Elevated bilirubin, kernicterus, and pale yellow stools are seen in this condition
Treatment is exchange transfusions, phototherapy, liver transplant
Crigler-Najjar, type 1
This is the lethal (perinatal period) form of glucuronyl transferase deficiency
Crigler-Najjar, type 1
Jaundice that persists past 3 weeks from birth, with total bilirubin 1.5-2.0, and otherwise asymptomatic, indicates this condition
Crigler-Najjar, type 2
This condition is a mild glucuronyl transferase deficiency that is asymptomatic lab abnormality
Gilbert syndrome
Gilbert syndrome is a mild deficiency of this enzyme
Glucuronyl transferase
This form of conjugated hyperbilirubinemia involves MRP-2, causing defective canalicular transport of dBilirubin
Dubin-Johnson syndrome
Dubin-Johnson syndrome involves a mutation in this protein, which leads to defective canalicular transport of dBilirubin
MRP-2 (multidrug resistance protein)
This form of conjugated hyperbilirubinemia is a deficiency of OATP1B1, leading to sinusoidal transport of conjugated bilirubin
Rotor syndrome
Rotor syndrome is a deficiency of this, leading to sinusoidal transport of conjugated bilirubin
OATP1B1
This form of conjugated hyperbilirubinemia may cause black liver from failure of canalicular transport
Often no visible gallbladder
Dubin-Johnson syndrome
Dubin-Johnson syndrome may cause black liver from failure of this
Canalicular transport
This form of conjugated hyperbilirubinemia has normal liver gross/micro appearance, is asymptomatic with no therapy needed
Rotor syndrome
This is acquired neonatal extrahepatic bile duct obstruction
Biliary atresia
New onset jaundice after normal physiologic jaundice timing could indicate this condition
(jaundice beyond 10 days)
Biliary atresia
Histology of this 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)
Biliary atresia
This is a syndrome paucity of interlobular bile ducts
Results in progressive intrahepatic paucity of bile ducts
Alagille syndrome
Symptoms of cholestasis, with pruritus, hypercholesterolemia, and eventual hepatic fibrosis are seen in this condition
Alagille syndrome
Butterfly shaped vertebrae are characteristic of this condition
Alagille syndrome
Eye and cardiac defects (pulmonary stenosis commonly), with triangular face and intellectual delay, are seen in this condition
Alagille syndrome
This is a congenital dilated segment of bile ducts, which results in poor bile flow
Choledochal “cyst”
What age does Choledochal “cyst” present?
Any age - neonatal to adult
Patients with Choledochal “cyst” have a high rate of this neoplasm, which occurs by teenage age most often
Cholangiocarcinoma
This condition is gross segmental dilatation of intrahepatic bile ducts
Caroli disease
Patients with Caroli disease can have cholangitis, fever, and abdominal pain, as well as increased risk of this neoplasm
Cholangiocarcinoma
Caroli disease is associated with this condition
Congenital hepatic fibrosis
This congenital liver condition is associated with congenital hepatic fibrosis
Caroli disease
