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Updated: Dec 29 2021

Congenital Hyperbilirubinemia

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  • Snapshot
    • A 3-day old newborn girl is evaluated in the hospital for jaundice that was first visible only in her face as seen in the image, but has gradually progressed to the trunk and extremities. She was born at 35 weeks' gestation to a healthy mother with an uncomplicated pregnancy course. On physical examination, her muscle tone is weak in the upper extremities and she has an altered cry. A total serum bilirubin level is measured and is found to be elevated and in the 99th percentile.
  • Introduction
    • Congenital Hyperbilirubinemia
      Unconjugated Hyperbilirubinemia
      SyndromePathophysiology
      Characteristics
      Gilbert syndrome
      • Defect in glucuronyl transferase
      • 5% of population
      • Increase in serum unconjugated bilirubin
      • Jaundice presents in stressful situations
      • Benign
        • no treatment necessary
      Crigler-Najjar syndrome
      • Deficiency of glucuronyl transferase
      • Markedly increased serum unconjugated bilirubin
      • Type 1
        • severe jaundice,death from kernicterus is common by 1 year of age; liver transplant is curative
      • Type 2
        • less severe; responds to treatment with phenobarbital
      Conjugated Hyperbilirubinemia
      Dubin-Johnson syndrome
      • Defective liver excretion of bilirubin
      • Increase in serum conjugated bilirubin
      • Benign
        • no treatment necessary
      • Liver turns black
      Rotor syndrome
      • Impaired hepatic uptake and defective excretion of bilirubin
      • Increase in serum conjugated bilirubin
      • Benign
        • no treatment necessary
        • milder than Dubin-Johnson syndrome
      • Liver does not turn black
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Pediatrics | Congenital Hyperbilirubinemia
  • Pediatrics
  • - Congenital Hyperbilirubinemia
13:44 min
9/7/2022
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