应用荧光斑点法筛查葡萄糖6-磷酸脱氢酶缺乏  

Fluorescence spot test screening of G6PD deficiency

作　　者：江剑辉[1] 马燮琴[1] 宋诚燕[1] 林本蘅[1] 曹伟锋[1] 吴淑贞 肖广仁 

机构地区：[1]广州市妇婴医院广州市新生儿筛查中心,510180 [2]台湾台北市荣民总医院医学研究部

出　　处：《中华检验医学杂志》2001年第6期336-338,共3页Chinese Journal of Laboratory Medicine

摘　　要：目的　建立适于葡萄糖 6 磷酸脱氢酶 (G6PD)缺乏新生儿筛查的检测方法。方法　用荧光斑点法 (FST)对新生儿筛查滤纸干血片标本进行检测 ,对阳性者召回 ,抽静脉血以G6PD/ 6PGD比值法进行确诊。结果　用FST测定 11437份新生儿筛查滤纸干血片标本的G6PD活性 ,其筛查阳性率 4.2 % ,确诊检出率 3.7%。与G6PD/ 6PGD比值法的符合率为 86 .8% ,重度G6PD缺陷者符合率达10 0 % ,具有高敏感性和特异性。结论　FST准确性高、简便、快捷、费用低廉 ,可对滤纸干血片标本进行大规模的筛查检测 。Objective To establish the methods for neonatal screening of glucose 6 phosphate dehydrogenase (G6PD) deficiency. Methods G6PD activity was measured by using fluorescence spot test (FST) with the dry blood sample on the filter paper for neonatal screening. G6PD/6PGD rate test of venous blood samples was further performed for confirmation. Results The positive G6PD deficiency rate was 4.2% and its detection rate was 3.7% in FST for neonatal screening. The conformation rate of FST with G6PD/6PGD rate test for G6PD deficiency was 86.8% and 100% particularly in severe deficiency groups. Both sensitivity and specificity were very high in severe deficiency groups. Conclusions FST is used in neonatal screening of G6PD deficiency because of its high accuracy, applicability, and simplicity Morover, it can test lots of dry blood samples on the filter paper. It is very favorable to diagnose and treat G6PD deficiency early in high incidence districts.

关 键 词：新生儿筛查 葡萄糖6-磷酸脱酸酶缺乏 荧光斑点法 

分 类 号：R446.1[医药卫生—诊断学]