Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism

Biol Neonate. 2006;90(4):243-6. doi: 10.1159/000093668. Epub 2006 May 30.

Abstract

Introduction: An apparent re-emergence of kernicterus has been recently reported, with some cases occurring in otherwise healthy breastfed newborn.

Methods: We describe a case of kernicterus in a term Caucasian newborn.

Results: An exceptional polymorphism of UGT1A1 gene promoter co-existed with asymptomatic inherited spherocytosis, due to erythroid anion exchange (band-3) deficiency. Both concurred to the development of severe neonatal hyperbilirubinaemia.

Conclusion: As some cases of kernikterus remain unresolved, haemolytic diseases and bilirubin metabolism disorders should be carefully investigated in unexplained severe neonatal hyperbilirubinaemia.

Publication types

  • Case Reports

MeSH terms

  • Bilirubin / blood
  • Glucuronosyltransferase / genetics*
  • Hematocrit
  • Humans
  • Infant, Newborn
  • Kernicterus / complications*
  • Kernicterus / genetics
  • Male
  • Pedigree
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic*
  • Spherocytosis, Hereditary / complications*
  • Spherocytosis, Hereditary / genetics

Substances

  • UGT1A1 enzyme
  • Glucuronosyltransferase
  • Bilirubin