Crigler-Najjar syndrome

Template:Infobox - Genetic disease


Crigler-Najjar syndrome type I

  • AR hereditary complete defect of bilirubin-uridine diphosphate-glucuronyl-transferase (UDPG-transferase, UGT1A1) hepatocytes.
  • The most severe indirect (unconjugated) hyperbilirubinemia with early complications (nuclear jaundice).

Etiology

  • Complete absence of bilirubin-uridine diphosphate glucuronyl transferase → bilirubin conjugation disorder → bilirubin cannot be excreted in the bile

Clinical course

  • Icterus with a sharp rise in unconjugated bilirubin during the first hours of life.
  • Bile is colorless.
  • Stool is brown - the transfer of unconjugated bilirubin through the intestinal mucosa.
  • Urine is light, no bilirubin can be detected in it (unconjugated does not pass into the urine)
  • Without therapy, nuclear icterus soon develops.

Diagnosis

  • Lack of UDPG-trasferase activity in the liver

Therapy

  • Intensive phototherapy and exchange blood transfusion, cholestyramine administration.
  • Liver transplantation[1].

Crigler-Najjar syndrom type II

  • AD hereditary partial defect in bilirubin uridine diphosphate glucuronyl transferase (UDPG transferase) hepatocytes.
  • Mild indirect (unconjugated) hyperbilirubinemia.

Clinical course

  • Icterus with unconjucated hyperbilirubinemia.
  • Bile and urine are stained, conjugated bilirubin can be detected.

Diagnosis

  • Lower activity of UDPG-transferase in the liver.

Therapy

  • Enzyme induction by phenobarbital[1].


References

  1. ↑ a b MUNTAU, Ania Carolina. Pediatrisc. 4. edition. Praha : Grada, 2009. pp. 386-388. ISBN 978-80-247-2525-3.


Source