不同出生季节对上海市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查临界值的影响及其分布特征  

Effects of different birth seasons on screening thresholds for neonatal glucose-6-phosphate dehydrogenase deficiency in Shanghai and its distribution characteristics

作　　者：郭静 田国力 朱之星 周卓 纪伟 张潇分 王燕敏 Guo Jing;Tian Guoli;Zhu Zhixing;Zhou Zhuo;Ji Wei;Zhang Xiaofen;Wang Yanmin(Neonatal Screening Center,Shanghai Children′s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200040,China;Center of Biomedical Informatics,Shanghai Children′s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200040,China)

机构地区：[1]上海市儿童医院,上海交通大学医学院附属儿童医院新生儿筛查中心,上海200040 [2]上海市儿童医院,上海交通大学医学院附属儿童医院生物医学信息研究中心,上海200040

出　　处：《中华实用儿科临床杂志》2025年第1期39-43,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：上海市科委医学创新研究专项项目(22Y11906900);上海交通大学"交大之星"计划医工交叉研究项目(YG2022QN097);上海市儿童医院院级课题国家自然科学基金培育专项(2021YGZQ09);上海市儿童医院院级课题临床研究培育专项(2023YLY06)。

摘　　要：目的分析新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查在不同出生季节的差异,采用间接法建立四季G6PD浓度的筛查临界值,并验证其结果的可靠性。方法横断面研究。收集2020年1月至2023年12月上海市儿童医院新生儿筛查中心活产新生儿140823例,其中春、夏、秋、冬4组分别为41029例、35796例、33969例和30029例。采用全自动荧光分析仪(GSP)测定滤纸干血片上的血G6PD浓度值。分析四季组浓度值的分布情况及统计学指标。采用Kolmogorov-Smirnov检验进行正态性分布检验。用Box-Cox将偏态分布数据转换成近似正态分布。四分位间距(Turkey)法剔除离群值。采用R语言编程绘制累计频率分布图,拟合线性回归方程Y=B X+A,并以单边第0.5百分位数值(P 0.5)作为筛查临界值。将筛查临界值分别与试剂说明书推荐的临界值和实验室的临界值进行相对偏差比较。并与参考变化值(RCV)进行比较。结果春季组初筛阳性率为4.02‰,确诊91例,发病率为1∶451;夏季组初筛阳性率为7.18‰,确诊90例,发病率为1∶398;秋季组初筛阳性率为3.21‰,确诊86例,发病率为1∶395;冬季组初筛阳性率为2.26‰,确诊61例,发病率为1∶492。发病率四季变化不大(P>0.05)。G6PD浓度值的四季组两两比较,冬季>秋季>春季>夏季。用间接法建立G6PD筛查临界值:春、夏、秋、冬4组的临界值分别为25.08 U/dL、22.83 U/dL、26.63 U/dL和38.01 U/dL。夏季组与实验室的临界值比较的相对偏差低于RCV;其他组比较的相对偏差均高于RCV。依据该筛查临界值,中国台湾预防医学基金会室间评价计划的12批120份样本的阴性、阳性符合率均达100%。结论G6PD缺乏症的发病率在不同出生季节上无差异。用间接法建立的四季各自的筛查临界值具有可行性,有利于提高筛查的工作效率。ObjectiveTo analyze the differences in screening neonatal glucose-6-phosphate dehydrogenase(G6PD)deficiency in different birth seasons,establish screening thresholds for G6PD concentration in each season using indirect methods,and verify the reliability of the results.MethodsThis was a cross-sectional study.A total of 140823 newborns were collected from the Neonatal Screening Center of Shanghai Children′s Hospital from January 2020 to December 2023,including 41029 cases,35796 cases,33969 cases and 30029 cases in spring,summer,autumn and winter groups,respectively.The concentration of G6PD on the dried blood filter paper was determined using an automatic fluorescence analyzer.The distribution and statistical index of concentration values in four seasons were analyzed.The Kolmogorov-Smirnov test was used for normal distribution.The skewed distribution data was converted into approximately normal distribution using Box-Cox.Outliers were eliminated using the interquartile range(Turkey)method.The cumulative frequency distribution map was drawn through R language programming.The linear regression equation Y=B X+A was fitted.The 0.5th percentile(P 0.5)was used as the screening threshold,which was compared with the reference value given by the manufacturer or laboratory and with the reference change value(RCV).ResultsIn the spring group,the positive rate was 4.02‰,91 cases were confirmed,and the incidence was 1∶451.In the summer group,the positive rate was 7.18‰,90 cases were confirmed,and the incidence was 1∶398.In the autumn group,the positive rate was 3.21‰,86 cases were confirmed,and the incidence was 1∶395.In the winter group,the positive rate was 2.26‰,61 cases were confirmed,and the incidence was 1∶492.The incidence rate did not change significantly in the four seasons(P>0.05).The G6PD concentrations in the four seasons were compared in pairs,and the result was winter>autumn>spring>summer.The thresholds for G6PD screening were established indirectly:25.08 U/dL,22.83 U/dL,26.63 U/dL and 38.01 U/dL

关 键 词：葡萄糖-6-磷酸脱氢酶缺乏症 间接法 临界值 新生儿疾病筛查 出生季节 

分 类 号：R722.1[医药卫生—儿科]