浙江省葡萄糖-6-磷酸脱氢酶缺乏症筛查现况调查
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1.浙江大学医学院附属儿童医院遗传代谢科;2.浙江博圣生物技术股份有限公司

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国家重点研发计划(2018YFC1002700;2018YFC1002703)。浙江省医药卫生科技计划(2019RC046)


A survey of glucose-6-phosphate deficiency screening situation in Zhejiang Province
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    摘要:

    目的 探讨新生儿葡萄糖-6-磷酸脱氢酶(G6PD)活性的流行病学分布特征、G6PD缺乏症患病率及cut-off值水平。方法 选取2015年3月至2017年9月,浙江省10个地市共计约144万例新生儿G6PD筛查数据。用荧光分析法测定滤纸血片中G6PD活性,初筛阳性者召回并用G6PD/6PGD直接比值法确证。用非参数检验和卡方检验等方法进行统计分析。结果 不同性别、出生孕周、出生体重、采血时龄和采血季节等因素下,G6PD活性分布差异有统计学差异(P<0.01)。浙江省G6PD缺乏症男性患病率高于女性,丽水市患病率最高(0.38%),舟山市患病率最低(0.11%),在浙江省内基本呈现南高北低的趋势。当G6PD活性cut-off值在2.60~2.80 U/g Hb范围时,男、女性新生儿G6PD缺乏症筛查的敏感度均为100%,且约登指数也最高(约为0.99)结论 G6PD 活性与人群和时间等因素有关,G6PD 缺乏症患病率受性别、地区影响较大,建议浙江省G6PD筛查cut-off值定为男性2.60 U/g Hb,女性2.80 U/g Hb。

    Abstract:

    Abstract Objective To explore the epidemiological distribution characteristics of glucose-6-phosphate dehydrogenase(G6PD), incidence of G6PD deficiency in neonates, and to determine its cutoff values. Methods All newborns (n=1.44million) born in 10 districts of Zhejiang Province from March 1, 2015 to September 31, 2017 were included in this study. Fluorescence analysis was used to determine the G6PD activity of dried blood spots and the direct ratio method of G6PD/6PGD was used to confirm the diagnosis of positive screening recalls. The results were analyzed by using nonparametric and chi-square tests. Results Significant difference was found in G6PD level among groups of different genders, gestational age, birth weight, blood sampling age, blood sampling season and districts(P<0.01). The male incidence of G6PD deficiency was significantly higher than female incidence. In different regions of Zhejiang province, the prevalence was highest in Lishui (0.38%) and lowest in Zhoushan (0.11%), basically showed a trend of high in the south and low in the north. .When the cut - off value of G6PD activity ranged from 2.60 U/g Hb to 2.80 U/g Hb , the sensitivity of G6PD deficiency screening for male and female newborns was 100%,and the correct index was the highest (about 0.99).Conclusions The G6PD level is affected by groups, time and districts. The incidence of G6PD deficiency was influenced by gender and different regions. The male and female cutoff values were initially set at 2.60 U/g Hb and 2.80 U/g Hb, respectively.

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缪海霞,张婷,方可欣,徐晓姹,吴鼎文,李庆波,施叶珍,许可,杨茹莱.浙江省葡萄糖-6-磷酸脱氢酶缺乏症筛查现况调查[J].临床检验杂志,2019,(9):706-709

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  • 收稿日期:2019-04-14
  • 最后修改日期:2019-09-27
  • 录用日期:2019-06-19
  • 在线发布日期: 2020-03-05
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