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葡萄糖-6-磷酸脱氢酶缺乏症与严重新生儿高胆红素血症:基因与环境相互作用的复杂性。

Glucose-6-phosphate dehydrogenase deficiency and severe neonatal hyperbilirubinemia: a complexity of interactions between genes and environment.

机构信息

Department of Neonatology, Shaare Zedek Medical Center, Faculty of Medicine of the Hebrew University, Jerusalem, Israel.

出版信息

Semin Fetal Neonatal Med. 2010 Jun;15(3):148-56. doi: 10.1016/j.siny.2009.10.007. Epub 2009 Nov 26.

Abstract

Glucose-6-phosphate dehydrogenase deficiency is a commonly occurring genetic condition, likely to be encountered today in virtually any corner of the globe. Sudden episodes of hemolysis associated with the condition may result in exponential increases in serum total bilirubin concentrations to levels at which bilirubin-induced neurologic damage may occur. The hyperbilirubinemia is the result of complex interactions between genes and environment. Neonatal screening programs coupled with parental and medical caretaker education may be successful in limiting the severity of disease.

摘要

葡萄糖-6-磷酸脱氢酶缺乏症是一种常见的遗传病症,在当今世界的任何一个角落都可能遇到。与该病症相关的突发性溶血可能导致血清总胆红素浓度呈指数级增加,达到可能发生胆红素诱导的神经损伤的水平。高胆红素血症是基因与环境之间复杂相互作用的结果。新生儿筛查计划以及父母和医疗保健者的教育可能成功地限制疾病的严重程度。

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