Biology of the neonate · 2006
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Berardi Alberto, Lugli Licia, Ferrari Fabrizio, Gargano Giancarlo, D'Apolito Maria, Marrone Agnese, Iolascon Achille
Аннотация
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.
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.