成都市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查分析

目的 了解成都地区新生儿葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的发病分布情况.方法 采用NADP＋氧化还原酶法,对11 085例（男6 440例,女4 645例）就诊患儿进行红细胞中G6PD活性的定量检测.结果 在11 085例受检者中,检出G6PD缺乏者677例,总检出率6.1%.其中男婴545例,占男婴检查人数的8.46%（545/6 440）;女婴132例,占女婴检查人数的2.84%（132/4 645）.结论 成都地区G6PD缺乏症检出率较高,应在新生儿期常规开展G6PD检测,及早诊断,采取有效防范措施,预防由G6PD缺乏引起的新生儿高胆红素血症及核黄疸的发生.

Newborn screening and analyzing of glucose-6-phosphate dehydrogenase deficiency in Chengdu

Objective To review the incidence distribution of newborn glucose-6-phosphate dehydrogenase（G6PD） deficiency in Chengdu. Methods 11 085 cases of outpatients in the hospital were surveyed. The activity of G6PD of these newborns were deter- mined by NADP＋ oxidoreductase. Results 677 cases of G6PD deficiency were detected among the 11 085 newborns,with a total detection rate of 6.1%. The incidence of G6PD deficiency of male infants was 8.46 % （545/6 440）, while the incidence of G6PD de- ficiency of female infants was 2.84%（132/4 645）. Conclusion G6PD deficiency should be included in neonatal screening program in Chengdu because of its high incidence. Because G6PD deficiency is easy to cause neonatal hyperbilirubinemia and kernicterus, neo- natal screening for G6PD deficiency is necessary to execute as soon as possible, which helps to prevent hyperbilirubinemia in early neonatal stage and hemolysis in lifelong.