某地区新生儿葡萄糖-6-磷酸脱氢酶筛查结果分析

目的了解广西地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发病情况,为患该病新生儿的防治提供参考依据。方法采用荧光法对本筛查中心的30 556例新生儿进行G6PD筛查检测,对可疑患儿召回并用G6PD/6PGD比值法进行确诊。结果所有被检测的新生儿中G6PD缺乏症的初筛阳性率是7.36%,其中男性为10.89%,女性为2.86%;对民族进行分组,汉族G6PD缺乏症的初筛阳性率是5.29%,壮族为9.54%,其他少数民族为5.42%。对可疑患儿召回确诊发现荧光法与G6PD/6PGD比值法的符合率为97%,重度G6PD缺陷者符合率达100%。结论荧光法准确性高、简便、快捷、费用低廉,广西壮族自治区作为G6PD缺乏症的高发区,应常规开展新生儿葡萄糖-6-磷酸脱氢酶缺乏症的筛查工作,使G6PD缺乏症患者能够及时采取预防性措施。

Analysis of G6PD levels in newborns of Guangxi

Objective To investigate the incidence of neonatal glucose-6-phosphate dehydrogenase（G6PD）deficiency.Methods A total of 30 556newborns were enrolled and detected for G6PD level by using fluorescence method,and G6PD/6PGD ratio test was performed for definite diagnosis in suspected cases.Results The screening incidence of G6PD deficiency was 7.36%in all detected newborns,and the rates in male and female were 10.89% and 2.86%.The screening positive rates in Han nationality,Zhuang nationality and other minority nationalities were 5.29%,9.54%and 5.42%respectively.The coincidence rate of fluorescence method and G6PD/6PGD ration test was 97% and the coincidence rate in severe deficiency cases was 100%.Conclusion Screening of G6PD deficiency should be routinely performed in Guangxi to ensure the prevention strategies could be applied in time.