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Kernicterus Associated with Hereditary Spherocytosis and UGT1A1 Promoter Polymorphism

2006; Karger Publishers; Volume: 90; Issue: 4 Linguagem: Inglês

10.1159/000093668

1661-7819

Alberto Berardi, Licia Lugli, Fabrizio Ferrari, Giancarlo Gargano, Maria D’Apolito, Agnese Marrone, Achille Iolascon,

Methemoglobinemia and Tumor Lysis Syndrome

<i>Introduction:</i> An apparent re-emergence of kernicterus has been recently reported, with some cases occurring in otherwise healthy breastfed newborn. <i>Methods:</i> We describe a case of kernicterus in a term Caucasian newborn. <i>Results:</i> An exceptional polymorphism of <i>UGT1A</i>1 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. <i>Conclusion:</i> As some cases of kernikterus remain unresolved, haemolytic diseases and bilirubin metabolism disorders should be carefully investigated in unexplained severe neonatal hyperbilirubinaemia.