贵州省新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查切值的建立  

Establishment of cut-off values for neonatal glucose-6-phosphate dehydrogenase deficiency in Guizhou Province

作　　者：石婧 厉勇 刘正美 杨水平 尹亚茹 班阳 张铸业 罗永姣 SHI Jing;LI Yong;LIU Zheng-mei;YANG Shui-ping;YIN Ya-ru;BAN Yang;ZHANG Zhu-ye;LUO Yong-jiao(Guizhou Maternal and Child Health Care Hospital,Guiyang,Guizhou 550004,China)

机构地区：[1]贵州省妇幼保健院,贵州贵阳550004

出　　处：《中国妇幼保健》2024年第6期1106-1110,共5页Maternal and Child Health Care of China

基　　金：贵州省卫生健康委科学技术基金项目(gzwjkj2020-1-192)。

摘　　要：目的 分析贵州省新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查指标的分布,制定适宜的切值。方法 以2021年7月—2022年7月贵州省新生儿疾病筛查中心开展新生儿疾病筛查辖区的各地州市出生的新生儿为筛查样本,共195 397例,分析G6PD筛查结果,结合新生儿出生季节、地区、性别对G6PD的影响采用百分位数法确定切值。结果 195 397例筛查标本中,初筛阳性5 683例,初筛阳性率为2.91%,确诊900例,总患病率为4.61‰。男性新生儿初筛阳性率、患病率均明显高于女性新生儿,差异均有统计学意义(均P<0.05)。不同出生季节、出生地区的新生儿初筛阳性率、患病率比较差异均有统计学意义(均P<0.05)。G6PD缺乏症患病率比较:黔东南苗族侗族自治州(11.82‰)>安顺市(11.1‰)>黔南布依族苗族自治州(7.14‰)>六盘水市(3.84‰)>毕节市(3.73‰)>遵义市(2.35‰)>贵阳市(1.31‰)>黔西南布依族苗族自治州(0.54‰)。195 397例新生儿G6PD活性中位数为56.19 U/dl,最小值为0.00 U/dl,最大值为233.70 U/dl。多重线性回归分析发现:出生季节与G6PD活性的相关性最好(B=-15.985)。结论 采用5%百分位数制定切值,建议将贵州省G6PD筛查切值制定为27.50 U/dl,此切值的建立可为贵州省今后新生儿G6PD缺乏症的筛查提供依据。Objective To analyze the distribution of neonatal glucose-6-phosphate dehydrogenase(G6PD) deficiency screening indexes in Guizhou Province,determine the appropriate cut-off values.Methods A total of 195 397 neonates born in the regions conducting neonatal diseases screening in Guizhou Province from July 2021 to July 2022 were selected,and the screening results of G6PD were analyzed,cut-off values were determined using the percentile method in combination with birth season,birth place,and gender of neonates.Results Among 195 397 neonates,5 683 cases were positive during primary screening,the positive rate was 2.91%,900 cases were diagnosed as G6PD deficiency,the total prevalence rate was 4.61‰.The positive rate of primary screening and prevalence rate of G6PD deficiency in boys were statistically significantly higher than those in girls(P<0.05).There were statistically significant differences in positive rate of primary screening and prevalence rate of G6PD deficiency among the neonates with different birth seasons and birth places(P<0.05).Comparison of prevalence rate of G6PD deficiency:Qiandongnan Miao and Dong Autonomous Prefecture(11.82‰)>Anshun City(11.1‰)>Qiannan Buyei and Miao Autonomous Prefecture(7.14‰)>Liupanshui City(3.84‰)>Bijie City(3.73‰)>Zunyi City(2.35‰)>Guiyang City(1.31‰)>Qiansouthwest Buyei and Miao Autonomous Prefecture(0.54‰).The median of G6PD activity in 195 397 neonates was 56.19 U/dl,the minimum value and maximum value were 0.00 U/dl and 233.70 U/dl,respectively.Multiple linear regression analysis showed that the correlation between birth season and G6PD activity was the best(B=-15.985).Conclusion The cut-off value should be set at the 5% percentile.It is suggested that the cut-off value of G6PD screening in Guizhou Province should be 27.50 U/dl.The establishment of the cut-off value can provide a basis for screening of neonatal G6PD deficiency in Guizhou Province in the future.

关 键 词：葡萄糖-6-磷酸脱氢酶缺乏症 切值 新生儿 

分 类 号：R722.1[医药卫生—儿科]