肇庆市68308名新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果综合分析  

Comprehensive Analysis of Screening Results of Glucose-6-phosphate Dehydrogenase Deficiency in 68,308 Newborns in Zhaoqing City

作　　者：胡雅[1] 刘文晴 温宝欣 李朝辉[1] HU Ya;LIU Wenqing;WEN Baoxin;LI Zhaohui(Department of Clinical Laboratory,Zhaoqing Second People's Hospital,Zhaoqing 526060,China)

机构地区：[1]肇庆市第二人民医院(肇庆市妇幼保健院)检验科,广东肇庆526060

出　　处：《中国医学创新》2024年第15期166-170,共5页Medical Innovation of China

摘　　要：目的:分析肇庆市68308名新生儿的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查结果。方法:选取2021年1月—2022年12月在肇庆市出生的68308名新生儿为研究对象,采集全部新生儿的足跟血,以荧光分析法对G6PD缺乏症进行初筛,对可疑阳性者召回,采集静脉血以连续监测法进行确诊。结果:2021年共筛查35610名,初筛阳性3580名,占比10.05%(3580/35610);2022年共筛查32698名,初筛阳性2983名,占比9.12%(2983/32698);6563例初筛阳性者,进行确诊检查,其中2021年确诊2585例,2022年确诊2153例,共确诊4738例G6PD缺乏症,确诊率为6.94%(4738/68308)。6563例初筛阳性者中,男5186例,女1377例;男婴初筛阳性中,共确诊3829例,确诊率为5.61%(3829/68308),女婴初筛阳性者中,共确诊909例,确诊率为1.33%(909/68308),男婴初筛阳性确诊率高于女婴初筛阳性确诊率,差异有统计学意义(χ^(2)=33.148,P<0.05);4738例G6PD缺乏症中,重度缺乏1130例,占比23.85%(1130/4738),中度缺乏1067例,占比22.52%(1067/4738),轻度缺乏2541例,占比53.63%(2541/4738)。结论:肇庆市68308名新生儿中,G6PD缺乏症以男婴为主,病情多为轻度缺乏。Objective:To analyze the screening results of glucose-6-phosphate dehydrogenase(G6PD)deficiency in 68,308 newborns in Zhaoqing City.Method:A total of 68,308 newborns born in Zhaoqing City from January 2021 to December 2022 were selected as the research objects.Heel blood of all newborns were collected,and G6PD deficiency was prescreened by fluorimetry,and suspected positive children were recalled,and venous blood were collected for diagnosis by continuous monitoring.Result:In 2021,a total of 35,610 newborns were screened,and 3,580 were positive in the prescreening,accounting for 10.05%(3,580/35,610).In 2022,a total of 32,698 newborns were screened,and 2,983 were positive in the prescreening,accounting for 9.12%(2,983/32,698).6,563 positive in the prescreening were examined for confirmation,of which 2,585 were confirmed in 2021 and 2,153 were confirmed in 2022,a total of 4,738 cases of G6PD deficiency were confirmed,the confirmed rate was 6.94%(4,738/68,308).Among the 6,563 positive cases,5,186 were baby boys and 1,377 were baby girls.Among baby boys with positive in prescreening,3,829 cases were diagnosed,the diagnosis rate was 5.61%(3,829/68,308).Among baby girls with positive in prescreening,909 cases were diagnosed,the diagnosis rate was 1.33%(909/68,308).Positive diagnosis rate of primary screening of baby boys was higher than that of baby girls,the difference was statistically significant(χ^(2)=33.148,P<0.05).Among the 4,738 cases of G6PD deficiency,1,130 cases were severe deficiency,accounting for 23.85%(1,130/4,738),1,067 cases were moderate deficiency,accounting for 22.52%(1,067/4,738),and 2,541 cases were mild deficiency,accounting for 53.63%(2,541/4,738).Conclusion:Among 68,308 newborns in Zhaoqing City,G6PD deficiency is mainly in baby boys,and most of the cases are mild deficiency.

关 键 词：葡萄糖 -6- 磷酸脱氢酶缺乏症 新生儿 筛查 

分 类 号：R722.1[医药卫生—儿科]