title: Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  As some cases of kernikterus remain unresolved, haemolytic diseases and bilirubin metabolism disorders should be carefully investigated in unexplained severe neonatal hyperbilirubinaemia.
authors.affiliation: Terapia Intensiva Neonatale, Dipartimento Misto Materno-Infantile, Azienda Ospedaliero-Universitaria, Policlinico di Modena, Modena, Italy. berardi.alberto@policlinico.mo.it
authors.forename: Alberto
authors.initials: A
authors.lastname: Berardi
authors.forename: Licia
authors.initials: L
authors.lastname: Lugli
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Ferrari
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Gargano
authors.forename: Maria
authors.initials: M
authors.lastname: D'Apolito
authors.forename: Agnese
authors.initials: A
authors.lastname: Marrone
authors.forename: Achille
authors.initials: A
authors.lastname: Iolascon
mesh_terms: D001663:Bilirubin / Q000097:blood; D014453:Glucuronosyltransferase / Q000235:genetics*; D006400:Hematocrit; D006801:Humans; D007231:Infant, Newborn; D007647:Kernicterus / Q000150:complications* / Q000235:genetics; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D013103:Spherocytosis, Hereditary / Q000150:complications* / Q000235:genetics; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme