INHERITED DISORDERS OF BILIRUBIN METABOLISM Flashcards
- Bilirubin Transport Deficit (cannot be transported to hepatocytes)
GILBERT’S SYNDROME
Characterized by impaired cellular uptake of bilirubin due to genetic mutation in UGT1A1 gene (chromosome #2)
GILBERT’S SYNDROME
Affected individuals may have no symptoms but may have mild icterus and predisposed acetaminophen toxicity.
GILBERT’S SYNDROME
GILBERT’S SYNDROME findings:
Indirect Bilirubin:
Indirect Bilirubin: 1.5-3.0 mg/dL (↑)
Conjugation deficit (UDGPT problem)
CRIGLER-NAJJAR SYNDROME
Chronic non-hemolytic unconjugated hyperbilirubinemia
CRIGLER-NAJJAR SYNDROME
CRIGLER-NAJJAR SYNDROME lab result
elevated Indirect Bilirubin
CRIGLER-NAJJAR SYNDROME treatment
Phototherapy (because bilirubin is photosensitive)
Complete UDGPT deficiency
CRIGLER-NAJJAR SYNDROME Type I
CRIGLER-NAJJAR SYNDROME Type I lab result
o Indirect bilirubin:
o Direct bilirubin:
o Indirect bilirubin: > 25 mg/dl
o Direct bilirubin: none
CRIGLER-NAJJAR SYNDROME Type I symptoms
kernicterus, colorless bile
Partial UDGPT deficiency
CRIGLER-NAJJAR SYNDROME Type II
CRIGLER-NAJJAR SYNDROME TREATMENT
PHOTOTHERAPY
CRIGLER-NAJJAR SYNDROME Type II lab results
o Indirect bilirubin: 5-20 mg/dl
o Direct bilirubin: Small amount
o Indirect bilirubin: 5-20 mg/dl
o Direct bilirubin: Small amount
Familial form of unconjugated hyperbilirubinemia caused by a circulating inhibitor of bilirubin conjugation
LUCEY-DRISCOLL SYNDROME
LUCEY-DRISCOLL SYNDROME lab findings
* Indirect bilirubin:
- Indirect bilirubin: increased (2-3 weeks of life)
Bilirubin excretion Deficit (conjugated hyperbilirubinemia)
DUBIN-JOHNSON SYNDROME
Defective excretion of direct bilirubin into the canaliculi caused by hepatocyte membrane defect.
DUBIN-JOHNSON SYNDROME
Characterized of an intense dark pigmentation of the liver due to accumulation of lipofuscin pigment (black liver).
DUBIN-JOHNSON SYNDROME
Similar with Dubin-Johnson Syndrome without the “black liver”
ROTOR SYNDROME
Rotor syndrome Laboratory findings:
o _______ in direct bilirubin and total bilirubin
o Delta Bilirubin:
o Elevation in direct bilirubin and total bilirubin
o Delta Bilirubin: Increased
