Berardi Alberto, Lugli Licia, Ferrari Fabrizio, Gargano Giancarlo, D'Apolito Maria, Marrone Agnese, Iolascon Achille
Terapia Intensiva Neonatale, Dipartimento Misto Materno-Infantile, Azienda Ospedaliero-Universitaria, Policlinico di Modena, Modena, Italy.
Biol Neonate. 2006;90(4):243-6. doi: 10.1159/000093668. Epub 2006 May 30.
An apparent re-emergence of kernicterus has been recently reported, with some cases occurring in otherwise healthy breastfed newborn.
We describe a case of kernicterus in a term Caucasian newborn.
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.
As some cases of kernikterus remain unresolved, haemolytic diseases and bilirubin metabolism disorders should be carefully investigated in unexplained severe neonatal hyperbilirubinaemia.
最近有报道称核黄疸明显再次出现，一些病例发生在其他方面健康的母乳喂养新生儿中。
我们描述了一例足月高加索新生儿核黄疸病例。
UGT1A1基因启动子的一种罕见多态性与无症状遗传性球形红细胞增多症同时存在，后者是由于红细胞阴离子交换（带3）缺乏所致。两者共同导致了严重的新生儿高胆红素血症。
由于一些核黄疸病例仍未得到解决，对于原因不明的严重新生儿高胆红素血症，应仔细调查溶血性疾病和胆红素代谢紊乱情况。
