新疆地区新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查切值的研究  

Study on screening cut-value of neonatal glucose-6-phosphate dehydrogenase deficiency in Xinjiang region

作　　者：刘志娟[1] 叶明刚[1] 靳慧亚 哈斯提牙尔·杰恩斯 韩宁宁[1] 赵静[1] LIU Zhijuan;YE Minggang;JIN Huiya;Hastyar Jaines;HAN Ningning;ZHAO Jing(The First Affiliated Hospital of Xinjiang Medical University,Urumqi,Xinjiang 830054,China)

机构地区：[1]新疆医科大学第一附属医院,新疆乌鲁木齐830054

出　　处：《中国优生与遗传杂志》2021年第7期996-998,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的建立新疆地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查最适宜的切值,并探讨性别、孕周、出生体重与G6PD活性水平的关系。方法对新疆部分地区2019年10月至2021年1月出生的9681例新生儿G6PD筛查结果进行分析,结合性别、孕周、出生体重等因素采用百分位数法确定切值。结果新生儿筛查的G6PD检测最佳阳性切值为26.2U/dL;不同性别、出生体重新生儿的G6PD活性水平亦有显著性差异(P<0.05);不同孕周新生儿足跟血G6PD活性分布差异无统计学意义(P>0.05)。结论新生儿葡萄糖-6-磷酸脱氢酶实验切值的确立为新疆地区今后的新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查提供了依据。Objective To establish the optimal cut-off value for the screening of glucose-6-phosphate dehydrogenase deficiency in neonates in Xinjiang, and to explore the relationship between gender, gestational age, birth weight and G6 PD activity. Methods The G6 PD screening results of 9681 neonates born from October 2019 to January 2021 in some areas of Xinjiang were analyzed, and the cut-off value was determined by percentile method based on gender, gestational age, birth weight and other factors. Results The best positive cut-off value of G6 PD in neonatal screening was 26.2 U/dL. There were also significant differences in G6 PD activity among different genders and birth weight(P<0.05);There was no significant difference in the distribution of G6 PD activity in heel blood of neonates at different gestational weeks(P<0.05). Conclusion The establishment of the experimental cut-off value of neonatal glucose-6-phosphate dehydrogenase can provide a basis for the screening of neonatal glucose-6-phosphate dehydrogenase deficiency in Xinjiang in the future.

关 键 词：新生儿疾病筛查 G6PD 切值 荧光法 

分 类 号：R722.1[医药卫生—儿科]