摘要
目的:探讨分析粤北清远地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查的结果和筛查的重要性。方法:清远地区各县市医院采集新生儿出生后3~5天的足跟血,滴在滤纸片上风干送到本院新生儿筛查中心进行检测。采用荧光斑点法测定G6PD活性水平,初筛阳性患儿电话召回采集外周血用葡萄糖-6-磷酸脱氢酶(G6PD)/6-磷酸葡萄糖酸脱氢酸(6PGD)定量比值法进行验证检测。结果:2016年清远地区筛查新生儿总数为57 815人次,G6PD缺乏症初筛阳性3 568人次,阳性率为6.17%(3 568/57 815);其中男性1 986人次,占55.7%(1 986/3 568),女性1 582人次,占44.3%(1 582/3 568)。全年共召回初筛阳性患儿1 085例,定量比值法验证阳性数为1 066人次,符合率为98%(1 066/1 085),其中男性659例,符合率100%,检出率为60.7%(659/1 085);女性426例,其中407例阳性,符合率为95.5%(407/426),检出率为37.5%(407/1 085),19例阴性,占1.8%(19/1 085)。结论:本地区葡萄糖-6-磷酸脱氢酶缺乏症发生率高,并且男性高于女性;对新生儿早期进行G6PD缺乏症的筛查,可以降低患高胆红素血症的风险,对预防新生儿核黄疸的发生有重要意义。
Objective： To investigate and determine the findings and significance of screening neonatal glucose-6-phosphate dehydrogenase（ G6 PD） deficiency in Qingyuan area,northern Guangdong. Methods： The heel blood of neonates were collected at 3-5 d after birth in the county and municipal hospitals of Qingyuan area,and were dripped on the filter paper and air-dried to the neonatal screening center of our hospital for testing.The neonates with positive findings in the preliminary screening were recalled by telephone,and the peripheral blood was collected.The quantitative ratio analysis of glucose-6-phosphate dehydrogenase（ G6 PD）/6-phosphogluconate dehydrogenate（ 6 PGD） was carried out for validation and testing.Results： The total number of neonates screened in Qingyuan area was 57 815.The number of neonates with positive findings of G6 PD deficiency in the preliminary screening was 3 568,and the positive rate was 6.17%（ 3 568/57 815）. Among them,there were 1 986 males,accounting for 55.7%（ 1 986/3 568） and 1 582 females,accounting for 44.3%（ 1 582/3 568）.A total of 1 085 neonates with positive findings in the preliminary screening were recalled in the whole year. The number of neonates with positive findings verified by the quantitative ratio analysis was 1 066,and the coincidence rate was98%（ 1 066/1 085）.Among them,there were 659 males,with the coincidence rate of 100% and the detection rate of 60.7%（ 659/1 085）; 426 females,including 407 positive cases,with the coincidence rate of 95.5%（ 407/426） and the detection rate of 37.5%（ 407/1 085） and 19 negative cases,accounting for 1.8%（ 19/1 085）.Conclusion： The incidence of G6 PD deficiency in this area is high,which is higher in males than that in females.The screening of G6 PD deficiency at early stage in neonates can reduce the risk of hyperbilirubinemia and is of great significance in preventing the occurrence of neonatal kernicterus.
作者
刘冬霞
许伟华
龙辉
欧阳慧
胡新年
Liu Dongxia;Xu Weihua;Long Hui;Ouyang Hui;Hu Xinnian(Eugenics and Genetic Experiment Diagnostic Center,Qingyuan Municipal Maternal and Child Health Hospital,Qingyuan,Guangdong 511515,China)
出处
《广州医科大学学报》
2017年第6期38-41,共4页
Academic Journal of Guangzhou Medical University
