新生儿葡萄糖-6-磷酸脱氢酶缺乏症的筛查现状  

Current Status of Neonatal Screening of Glucose-6-Phosphate Dehydrogenase Deficiency

作　　者：舒慧英[1] 于洁[2] 李晓静[1] 

机构地区：[1]重庆医科大学附属成都市妇女儿童中心医院血液科,成都610091 [2]重庆医科大学附属儿童医院血液科

出　　处：《中华妇幼临床医学杂志（电子版）》2013年第5期600-604,共5页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

摘　　要：葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是一种最常见的酶功能缺陷而致的溶血性疾病,具有遗传性,世界范围内约4亿人受累。新生儿G6PD缺乏症的主要临床表现为各因素触发的新生儿黄疸、急性溶血,而核黄疸是新生儿G6PD缺乏症患儿致死的重要因素。国内外文献报道,在新生儿G6PD缺乏症筛查的基础上,予以综合防治,其诱发的部分疾病可得到很好的控制。目前,一些国家已经建立完善的新生儿G6PD缺乏症筛查体系,但部分高发地区尚未开展该项工作。作者拟就新生儿G6PD缺乏症筛查的现状、必要性、可行性、存在问题及解决路径,作一综述。Glucose-6-phosphate dehydrogenase （G6PD） deficiency, a hereditary predisposition to hemolysis, is one of the most common human enzyme defect disease, It is estimated to affect approximately 400 million people worldwide. The most frequent clinical manifestations of neonatal G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which are usually triggered by an exogenous agent. Kernicterus is a serious contributor to newborn mortality and morbidity in G6PD deficient babies. It has proved that neonatal G6PD deficiency cloud be well controlled by the newborn screening and comprehensive prevention at home and abroad for decades. At present, several countries have successfully established screening programmes for neonatal G6PD deficiency, but some of the high ineidence areas of this disease have not been carried out. This paper reviews the current status, necessity, feasibility, problems and solution paths of neonatal screening for G6PD deficiency.

关 键 词：葡萄糖-6-磷酸脱氢酶缺乏症 新生儿 筛查 溶血 黄疸 

分 类 号：R722.1[医药卫生—儿科]