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Updated: Jul 23 2017

Congenital Hyperbilirubinemia

Unconjugated Hyperbilirubinemia

Gilbert's syndrome
  • defect in glucuronyl transferase
  • 5% of population
  • increase in serum unconjugated bilirubin
  • becomes jaundiced in stressful situations
  • Benign
  • No treatment
Crigler-Najjar
Type I
  • deficiency in glucuronyl transferase
  • markedly increased serum unconjugated bilirubin
  • present in neonates
  • Severe
  • Death from kernicterus by age 1 year
  • Phenobarbitol
Crigler-Najjar
Type II
  • deficiency in glucuronyl transferase
  • increase in serum unconjugated bilirubin
  • Mild
  • Patients suffer from no severe clinical deficits
  • Phenobarbitol

 

Conjugated Hyperbilirubinemia

Dubin-Johnson syndrome
  • defective bilirubin excretion
  • increase in serum conjugated bilirubin
  • presents with jaundice
  • Benign
  • No treatment
  • Liver turns black
Rotor syndrome
  • defective bilirubin storage
  • increase in serum conjugated bilirubin
  • presents with jaundice
  • Benign
  • No treatment
Private Note