广州市125万新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查和防治  

Newborn screening and treatment of Glucose-6-phosphate dehydrogenase deficiency in Guangzhou

作　　者：江剑辉 李蓓 曹伟锋 蒋翔 贾雪芳 陈倩瑜 

机构地区：[1]广东省广州市妇女儿童医疗中心,广州市妇婴医院广州市新生儿筛查中心,510180

出　　处：《广东医学》2009年第9期1219-1221,共3页Guangdong Medical Journal

基　　金：十一五国家科技支撑计划项目(编号:2006BA105A07)

摘　　要：目的总结广州市新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症新生儿筛查结果,为该病新生儿筛查提供依据和参考。方法对广州市125万新生儿进行G6PD缺乏症筛查。(1)筛查标本:按《新生儿筛查滤纸干血斑标本采集常规》采集、保存和送检滤纸干血斑标本,2009年3月前以挂号信递送,2009年4月后以EMS速递"半日达"和"次晨达"递送;(2)筛查实验检测:先后用荧光斑点法和定量荧光法;(3)筛查结果报告方法:先后用邮递、电话、计算机网络传输和互联网发布等。(4)确诊方法:改良NBT比值法。用干血片基因直接扩增法测定了广州人G6PD基因突变类型。结果1989年4月至2009年6月广州筛查了新生儿1250195人。干血片采集后不同时间分析将得到不同的结果,与采集后第1天的测值相比较,第3,7,14天测值分别降至80%,68%和58%。应用EMS速递法,血片标本能于生后4～5d送达实验室。在收到标本当天完成G6PD筛查检测。筛查结果可用计算机网络传输和互联网迅速发布。广州G6PD缺乏症发病率为5.28%(男婴),基因突变研究显示广州地区以G6PD1376G→T(72/168),G6PD1388G→A(35/168)和G6PD95A→G(30/168)为主。结论广州地区G6PD缺乏症发病率达5.28%(男婴),是该病高发区,常见突变类型为G6PD1376G→T,G6PD1388G→A和G6PD95A→G,易引起新生儿高胆红素血症和有诱因时引发儿童急性溶血性贫血,有必要开展新生儿G6PD缺乏症筛查。实施G6PD缺乏症筛查应采用EMS速递加快标本递送速度,EMS"半日达"和"次晨达"递送方法值得推荐。标本收到当天必须完成G6PD实验检测。应用定量荧光法可使筛查结果更加客观可信。应用互联网网络系统和新生儿疾病筛查信息系统新技术,筛查结果可通过互联网迅速发布,家长、采血机构能上网自助查询结果。生后1周内完成筛查诊断可为新生儿高胆红素血症和小儿溶血性贫血早期防治创造条件。Objective To review the newborn screening results of Guangzhou in order to provide support for neonatal screening for glucose -6 - phosphate dehydrogenase （G6PD） deficiency. Methods Newborn screening for G6PD deficiency in Guangzhou was performed as followings. Dried blood paper specimen were collected, stored and transferred according to the regulations. Blood paper was transferred by registered mail in the past and nowadays by express mails. Fluorescent spot test （FST） and fluorescence quantity assay （FQA） were used to measured G6PD activity with increased reliability. Feedback or report of screening results was through post, telephone, or internet. Amend G6PD/6PGD ratio of whole blood was used as a confirmation diagnosis method. G6PD gene mutations were investigated by use of DNA direct amplification assay on the dry blood spot specimens. Results From April, 1989 to June, 2009, 1,250,195 newborn were screened. EMS fastened blood paper transfer. Screening specimen can be determined earlier on 4 - 5 day after birth. Compared with the value determined on first day after collected, dry blood G6PD activities decreased to 80% on third day, to 68% on seventh day and to 58% on fourteenth day. Positive rate of G6PD deficiency was 4.2% with FST and was 5.0% with FQA. G6PD/6PGD ratio was recommended to be as a confirmation diagnosis method. Neonatal screening information can be shared, recorded, transferred, stored, inquired by using computer networks or internet. Frequent G6PD gene mutations of Cantonese male infant were G6PD 1376G→T（72/168）, G6PD1388G→A（35/168） and G6PD95A→G （30/168）. The incidence of G6PD deficiency （male infant） was 5.41% （1/18）. Conclusion G6PD deficiency should be included in neonatal screening program in Guangzhou because of its high incidence. The most common gene mutations are G6PD 1376G→T, G6PD1388G→A and G6PD95A→G. G6PD deficiency is easy to cause neonatal hyperbilirubinemia and hemolysis in children. Dry blood spot specimen should be transferred to

关 键 词：葡萄糖-6-磷酸脱氢酶缺乏症 筛查 早期防治 高胆红素血症 溶血症 互联网 电子通道 筛查结果自助查询 

分 类 号：R596[医药卫生—内科学] R722.11[医药卫生—临床医学]