上海市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查及临界值确立  

Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Shanghai and determination of cut off value

作　　者：郭静[1,2] 许洪平[1,2] 姚静[1,2] 田国力[1,2] 

机构地区：[1]上海市儿童医院 [2]上海交通大学附属儿童医院新生儿筛查中心,上海200040

出　　处：《上海交通大学学报（医学版）》2015年第4期618-621,共4页Journal of Shanghai Jiao tong University:Medical Science

摘　　要：目的开展上海地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的筛查,确立筛查实验室的临界值,降低假阳性率,提高出生人口素质。方法采用定量荧光法测定新生儿滤纸干血片上的G6PD浓度值;以G6PD/6PGD定量比值法对筛查阳性患儿进行确诊。结果筛查新生儿217 447名(男婴116 549名,女婴100 898名),确诊患儿270例(男婴250例,女婴20例),新生儿G6PD缺乏症的发生率为0.18%,男婴发生率为0.31%,女婴发生率0.03%;新生儿、男婴和女婴G6PD浓度的临界值分别为2.165 U/g、1.97 U/g和2.165U/g。结论开展新生儿疾病筛查可早期诊断和预防G6PD,值得在上海地区推广;筛查实验室建立新生儿、男婴、女婴各自的临界值,可降低G6PD缺乏症筛查的假阳性,提高筛查效率。Objective To screen the newborns with glucose-6-phosphate dehydrogenase（ G6PD） deficiency in Shanghai, determine the cut off value for the screening laboratory, reduce the false positive rate, and improve the quality of population.Methods G6 PDlevels of filter paper blood samples were detected by the quantitative fluorometric method.Definite diagnoses were made for suspected cases by the G6 PD/6PG Dquantitative ratio method.Results A total of 217 447 newborns（ 116 549 boys and 100 898 girls） were screened and 270 of themwere definitely diagnosed with G6 PDdeficiency（ 250 boys and 20 girls）.The incidences of G6 PDdeficiency of all newborns, boys, and girls were 0.18%, 0.31%, and 0.03%,respectively.The cut off values of G6 PDof all newborns, boys, and girls were 2.165 U/g, 1.97 U/g, and2.165 U/g, respectively.Conclusion Early diagnosis and prevention of G6 PDdeficiency can be achieved by the neonatal screening, which should be popularized in Shanghai.Screening laboratories should determine the cut off values for newborns, boys, and girls that can reduce the false positive rate for screening G6 PDdeficiency and improve the screening efficiency.

关 键 词：新生儿疾病筛查 葡萄糖-6-磷酸脱氢酶缺乏症 发生率 临界值 

分 类 号：R722.1[医药卫生—儿科]