Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.
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.
Berardi
Alberto
A
Terapia Intensiva Neonatale, Dipartimento Misto Materno-Infantile, Azienda Ospedaliero-Universitaria, Policlinico di Modena, Modena, Italy. berardi.alberto@policlinico.mo.it
Lugli
Licia
L
Ferrari
Fabrizio
F
Gargano
Giancarlo
G
D'Apolito
Maria
M
Marrone
Agnese
A
Iolascon
Achille
A
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
D001663:Bilirubin; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme