江门市新生儿G6PD筛查结果回顾性分析  被引量:5

Retrospective analysis of G6PD screening results in newborns in Jiangmen City

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作  者:杨应松[1] 杨梅 钟志来 李智明 刘颖妍[1] 黎雅贞 冯建江[1] 唐佳 YANG Ying-song;YANG Mei;ZHONG Zhi-lai;LI Zhi-ming;LIU Ying-yan;LI Ya-zhen;FENG Jian-jiang;TANG Jia(Medical Genetics Center, Maternity and Child Health Care Hospital of Jiangmen City in Guangdong Province, Jiangmen 529000, China)

机构地区:[1]广东省江门市妇幼保健院医学遗传中心

出  处:《中国当代医药》2019年第16期138-141,共4页China Modern Medicine

基  金:国家自然科学基金项目(81600404);中国博士后科学基金项目(2017M622916);广东省江门市留学归国人员创新创业项目启动类项目;广东省江门市第四批医疗卫生科技计划项目(2017A3019)

摘  要:目的调查江门市新生儿的G6PD缺乏症发病率,分析现有荧光定量法筛查G6PD缺乏症的可靠性。方法对2017年1月~2018年9月出生的73 183例新生儿进行G6PD缺乏症的荧光定量筛查,并对荧光定量筛查阳性者进行召回并采用酶学或基因检测法进行二次诊断,并将三种诊断结果进行对比。结果对73 183例(男性38 240例,女性34 943例)新生儿进行筛查,共有3027例(男性2632例,女性395例)阳性,总体筛查阳性率为4.14%(3027/73 183),男女筛查阳性率分别为6.88%(2632/38 240)、1.13%(395/34 943)。荧光筛查与酶学检测诊断符合率为96.57%(367/380),其中男女符合率分别为98.56%(343/348)、75.00%(24/32)。荧光定量法与基因检测诊断的符合率为92.98%(212/228),男女符合率分别为96.23%(153/159)、85.51%(59/69)。基因检测与酶活性检测诊断的符合率为89.22%(149/167),男女符合率分别100.00%(112/112)、67.27%(37/55)。结论我市是G6PD缺乏症的高发地区,目前荧光定量筛查方法能筛查出绝大部分男性患者及女性纯合子,但对女性杂合子敏感性不高。对筛查阳性的可疑患儿及临床高度怀疑者,应同时进行酶活性及基因检测。Objective To investigate the incidence of G6 PD deficiency in newborns in Jiangmen City, and to analyze the reliability of fluorescence quantitative method for screening G6 PD deficiency. Methods Fluorescent quantitative screening of 73183 newborns born from January 2017 to September 2018 for G6 PD deficiency was carried out. The patients who were positive for fluorescence quantitative screening were recalled and re-diagnosed by enzyme or gene detection, and the three diagnostic results were compared. Results A total of 73 183 newborns(38 240 males and 34 943 females) were screened, and 3027 cases(2632 males and 395 females) were positive. The overall screening positive rate was 4.14%(3027/73 183). The positive rates of male and female screening were 6.88%(2632/38 240) and 1.13%(395/34943), respectively. The coincidence rate between fluorescence screening and enzymatic diagnosis was 96.57%(367/380), in which the coincident rates of male and female were 98.56%(343/348) and 75.00%(24/32) respectively. The coincidence rate between fluorescence quantitative method and gene detection was 92.98%(212/228). The coincident rates of male and female were 96.23%(153/159) and 85.51%(59/69), respectively. The coincidence rate of gene detection and enzyme activity was 89.22%(149/167), and the coincidence rate of male and female was 100.00%(112/112) and 67.27%(37/55), respectively. Conclusion Our city is a high incidence area of G6 PD deficiency. At present, the fluorescence quantitative screening method can screen most male patients and female homozygotes, but the sensitivity to female heterozygotes is not high. Enzyme activity and gene detection should be carried out at the same time for suspicious children with positive screening and highly suspected clinically.

关 键 词:葡萄糖-6-磷酸脱氢酶缺乏症 新生儿筛查 发生率 符合率 

分 类 号:R729[医药卫生—儿科]

 

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