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Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism
Alberto Berardi1, Licia Lugli, Fabrizio Ferrari
1Terapia Intensiva Neonatale, Dipartimento Misto Materno-Infantile, Azienda Ospedaliero-Universitaria, Policlinico di Modena, Modena, Italy. berardi.alberto@policlinico.mo.it
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.
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