云南省部分县/市新生儿G6PD缺乏症筛查结果及阳性临界值分析

Analysis of screening results and positive cut off value of neonatal glucose-6-dehydrogenase deficiency in some states/cities of Yunnan Province

目的回顾性分析昆明医科大学第一附属医院新生儿遗传代谢病筛查中心6年来葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查结果,同时对其筛查阳性临界值进行探讨。方法采用荧光分析法,对新生儿G6PD水平进行筛查检测,用G6PD/6PGD定量比值法对筛查阳性患儿进行确诊,采用受试者工作特征曲线确认筛查阳性临界值。结果2013-2018年,共筛查155880例G6PD标本(男性81390例,女性74490例),筛查率为16.74%。确诊患儿1187例(男性1063例,女性124例),G6PD缺乏症的发病率为0.76%(男性1.31%,女性0.16%),男性、女性发病率比较,差异有统计学意义(χ^2=349.71,P<0.001)。男性、女性的G6PD缺乏症筛查阳性临界值分别为2.25、2.45 U/gHb。结论该中心的G6PD缺乏症筛查率较低,后续要加强宣传进一步提高筛查率。确定适宜的筛查阳性临界值能够最大限度地避免假阳性结果和漏筛情况的发生。

Objective Retrospective analysis of 6 years of Screening Center for Neonatal Genetic and Metabolic diseases,First Affiliated Hospital of Kunming Medical University for glucose-6-phosphate dehydrogenase(G6PD)screening results,and discuss the cut off value of screening.Methods The level of G6PD was detected by fluorescence analysis,the positive children were diagnosed by quantitative ratio of G6PD/6PGD,and ROC curve method was used to confirm the cut off value of screening.Results From 2013 to 2018,a total of 155880 G6PD specimens were screened(81390 males and 74490 females),screening rate was 16.74%.There were 1187 confirmed children(1063 males and 124 females),and the incidence rate of G6PD deficiency was 0.76%(1.31%for males and 0.16%for females),the difference between male and female incidence was statistically significant(χ^2=349.71,P<0.001).The cut off value of screening for G6PD deficiency in male and female was 2.25 U/gHb and 2.45 U/gHb,respectively.Conclusion The screening rate of G6PD deficiency in the center is relatively low,and the follow-up publicity should be strengthened to further improve the screening rate.To determine the appropriate positive cut off value of screening can avoid the occurrence of false positive results and missed screening to the greatest extent.