Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.
Biol Neonate
; 90(4): 243-6, 2006.
Article
em En
| MEDLINE
| ID: mdl-16735790
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Esferocitose Hereditária
/
Regiões Promotoras Genéticas
/
Glucuronosiltransferase
/
Kernicterus
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Biol Neonate
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Itália