应用荧光法筛查葡萄糖6磷酸脱氢酶缺乏症

Screening neonatal glucose-6-phosphate-dehydrogenase deficiency by fluorescent assay

目的探讨荧光法筛查新生儿葡萄糖6磷酸脱氢酶(G6PD)缺乏症中的实用性。方法新生儿出生72 h后采足跟血,滴在规定的滤纸上,采用荧光法测定G6PD活性水平,同时与荧光斑点法、G6PD/6-磷酸葡萄糖酸脱氢酸(6PGD)比值法进行比较。并且检测3 706例新生儿G6PD正常水平及筛查临界值(cut off值)。结果该方法最低检测限为0.52 U/gHb,批内平均变异系数(CV)为9.8%,批间平均CV为11.1%,高、中、低3个浓度的平均回收率为96.4%。实验结果与目前国内筛查使用的荧光斑点法的符合率为97.5%,和G6PD/6PGD比值法的符合率为100%。筛查cut off值建议定为2.7 U/gHb。结论荧光法适用于新生儿G6PD缺乏症的筛查。

Objective To investigate the application of glucose-6-phosphate-dehydrogenase （G6PD） determination by fluorescent assay in neonatal G6PD deficiency screening. Methods Heel blood sample was collected from 3 760 newborns 72 hours after, birth and dropped on filter paper for G6PD determination. Fluorescent assay was compared with fluorescent spot test and G6PD/6-phosphoglueonate dehgdrogenase（6PGD） test. Results The minimal detection limit of fluorescent assay was 0.52 U/gHb, and the average CV within and between run were 9.8% and 11.1% respectively. The average rate of recovery of high, medium and low concentration was 96.4%. The correlation of fluorescent assay was 97.5% with fluorescent spot test and 100% with G6PD/6PGD test. The cut off value of screening was 2.7 U/glib. Conclusions Fluorescent assay can be applied to screen G6PD deficiency.