1906例新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查阳性结果分析

Analysis on positive results of glucose-6-phosphate dehydrogenase deficiency screening in 1 906 neonates

目的探讨影响新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查结果的因素,提高新生儿G6PD缺乏症的筛查效率。方法选择2015年1月-2017年11月广州市越秀区新生儿G6PD缺乏症筛查阳性的1 906例患儿为研究对象,采用G6PD酶活性测定法进行确诊,分析不同性别、体重和孕龄间筛查检测值和确诊率的差异,探讨影响筛查效率的因素。结果 1 906例筛查阳性新生儿中共确诊G6PD缺乏症1 671例,确诊率为87.7%,其中男性确诊率为92.7%,女性确诊率为61.4%,两者比较,差异有统计学意义(P<0.001)。不同出生体重和孕龄组间确诊率比较,差异无统计学意义(P>0.05)。男性和女性筛查检测值平均数分别为1.21 U/g Hb和1.78U/g Hb,两者比较,差异有统计学意义。男性在切值≤2.0 U/g Hb时可检出93.3%的G6PD缺乏症新生儿,女性只检出56.1%的G6PD缺乏症新生儿。男性检出率随着检测切值范围增高而降低,女性则相反。结论新生儿G6PD缺乏症筛查效率与性别有关,与新生儿出生体重和孕龄无关。新生儿G6PD缺乏症的筛查能有效地检出G6PD缺乏症患儿,对预防和降低G6PD缺乏导致的新生儿严重高胆红素血症具有重要意义。

Objective To explore the influencing factors of screening results of glucose-6-phosphate dehydrogenase（ G6 PD） deficiency,improve the screening efficiency of neonatal G6 PD deficiency. Methods From January 2015 to November 2017,1 906 neonates with positive results of G6 PD deficiency screening were selected from Yuexiu District in Guangzhou city,then they were diagnosed definitely by G6 PD enzyme activity assay. The differences of screening test values and definite diagnostic rates among the neonates of different genders,weights,and gestational age were analyzed. The influencing factors of screening efficiency were discussed. Results Among 1 906 neonates with positive results,1 671 neonates were diagnosed as G6 PD deficiency definitely,the definite diagnostic rate was 87. 7%. The definite diagnostic rates of boys and girls were 92. 7% and 61. 4%,respectively,there was statistically significant difference（ P〈0.001）. There was no statistically significant difference in definite diagnostic rate among the neonates of different birth weights and gestational age groups（ P〈0.05）. The mean values of screening in boys and girls were 1. 21 U/g Hb and 1. 78 U/g Hb,respectively,there was statistically significant difference. The detection rate of G6 PD deficiency was 93. 3% in boys if the cut-off value≤2. 0 U/g Hb,while the detection rate of G6 PD deficiency was 56. 1% in girls. The detection rate in boys decreased with the increase of cut-off value,while the detection rate in girls increased with the increase of cut-off value. Conclusion The screening efficiency of G6 PD deficiency in neonates is correlated with gender,which is not correlated with neonatal birth weight and gestational age. Neonatal G6 PD deficiency screening can effectively detect the neonates with G6 PD deficiency,which is of great significance to prevent and reduce neonatal severe hyperbilirubinemia induced by G6 PD deficiency.