Alberto Berardi, Licia Lugli, Fabrizio Ferrari, Giancarlo Gargano, Maria D'Apolito, Agnese Marrone, Achille Iolascon
{"title":"遗传性球形红细胞增多症和UGT1A1启动子多态性相关的核黄疸。","authors":"Alberto Berardi, Licia Lugli, Fabrizio Ferrari, Giancarlo Gargano, Maria D'Apolito, Agnese Marrone, Achille Iolascon","doi":"10.1159/000093668","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>An apparent re-emergence of kernicterus has been recently reported, with some cases occurring in otherwise healthy breastfed newborn.</p><p><strong>Methods: </strong>We describe a case of kernicterus in a term Caucasian newborn.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>As some cases of kernikterus remain unresolved, haemolytic diseases and bilirubin metabolism disorders should be carefully investigated in unexplained severe neonatal hyperbilirubinaemia.</p>","PeriodicalId":9091,"journal":{"name":"Biology of the neonate","volume":"90 4","pages":"243-6"},"PeriodicalIF":0.0000,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000093668","citationCount":"29","resultStr":"{\"title\":\"Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.\",\"authors\":\"Alberto Berardi, Licia Lugli, Fabrizio Ferrari, Giancarlo Gargano, Maria D'Apolito, Agnese Marrone, Achille Iolascon\",\"doi\":\"10.1159/000093668\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>An apparent re-emergence of kernicterus has been recently reported, with some cases occurring in otherwise healthy breastfed newborn.</p><p><strong>Methods: </strong>We describe a case of kernicterus in a term Caucasian newborn.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>As some cases of kernikterus remain unresolved, haemolytic diseases and bilirubin metabolism disorders should be carefully investigated in unexplained severe neonatal hyperbilirubinaemia.</p>\",\"PeriodicalId\":9091,\"journal\":{\"name\":\"Biology of the neonate\",\"volume\":\"90 4\",\"pages\":\"243-6\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2006-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1159/000093668\",\"citationCount\":\"29\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Biology of the neonate\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000093668\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2006/5/30 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biology of the neonate","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000093668","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2006/5/30 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.
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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