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.
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism / Berardi, A; Lugli, L; Ferrari, Fabrizio; Gargano, G; D'Apolito, M; Marrone, A; Iolascon, A.. - In: BIOLOGY OF THE NEONATE. - ISSN 0006-3126. - STAMPA. - 90:(2006), pp. 243-246. [10.1159/000093668]
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.
Berardi A;FERRARI, Fabrizio;
2006
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.
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