(7) 5 Inherited Disorders of Bili Metabolism Flashcards
1
Q
- Bilirubin transport deficit that’s why hepatocytes cannot process bilirubin
- Characterized by impaired cellular uptake of bilirubin due to genetic mutation in UGT1A1 gene (chromosome #2)
- Affected individuals may have no symptoms but may have mild icterus & predisposed acetaminophen toxicity.
A
GILBERT’S SYNDROME
2
Q
- Conjugation deficit
- Chronic non-hemolytic unconjugated hyperbilirubinemia
A
CRIGLER-NAJJAR SYNDROME
3
Q
CNS Type I
A
o Complete deficiency of UDGPT
o Sx: Kernicterus, colorless bile
4
Q
CNS Type II
A
o Partial deficiency of UDGPT
5
Q
Treatment for CNS:
A
Phototherapy
6
Q
- Familial form of unconjugated hyperbilirubinemia
- Caused by a circulating inhibitor of bilirubin conjugation
- Has UDPGT but there’s inhibitor so bilirubin cannot be conjugated
A
LUCEY-DRISCOLL SYNDROME
7
Q
- Conjugated hyperbilirubinemia
- Bilirubin excretion deficit (B1 is converted to B2 but cannot be excreted)
- Defective excretion of B2 (direct) into the canaliculi caused by hepatocyte membrane defect.
- Characterized of an intense dark pigmentation of the liver due to accumulation of lipofuscin pigment → black liver.
A
DUBIN-JOHNSON SYNDROME
8
Q
- Conjugated hyperbilirubinemia
- Similar with Dubin-Johnson Syndrome without the “black liver”
- Cause is unknown
A
ROTOR SYNDROME
9
Q
↑IB / B1 / UNCONJ. B.
A
o Biliary obstruction (gall stones)
o Pancreatic (head) cancer
o Dubin-Johnson Syndrome (DJS)
o Alcoholic & viral hepatitis
o Biliary atresia
o Hepatocellular disease
