摘要
目的探讨本地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发病情况以采取措施预防因G6PD缺乏而引起的一系列疾病的发生,保护新生儿的健康成长。方法采取新生儿出生后72h滤纸干血样应用时间分辨(DELFIA)荧光法检测G6PD含量。结果 192 469例新生儿中G6PD缺乏症筛查试验阳性者48例,全市新生儿G6PD缺乏症发病率为2.49/万。其中陕西省籍贯为18例(检出率37.5%),外省籍贯为30例(检出率为62.5%),χ2=6.00,0.01<P<0.05。其中患儿母亲为广西籍贯者15例(占50%);贵州籍贯3例(占10%);广东籍贯6例(占20%);甘肃、河南、浙江、福建、海南、四川籍贯各1例(各占3.33%)。结论本地区新生儿G6PD缺乏症发病率低于南方地区,但G6PD缺乏症高发区人口流入可增加本地区的发生率,因此应对G6PD高发区流入人群给予充分关注,对患儿进行早期干预并对家长进行健康教育,避免因核黄疸而引起患儿死亡和智能发育障碍。
Objective: To prevent the occurrence of a series of diseases induced by G6PD deficiency and to guarantee healthy growth of newborn, the incidence of local neonatal glucose-6-phosphate dehydrogenase (G6PD) deficiency was discussed in this paper. Methods: Time-resolved (DELFIA) fluorescence was applied to detect the concentration of G6PD in filter paper dried blood samples of 72h after birth. Results: 48 cases of G6PD deficiency positive infants were detected during 192 469 cases of newborn, and the morbidity of G6PD deficiency in the whole city was 2.49/10000. There were 18 cases in the province of Shaanxi (detectable rate was 37.5%) , and 30 cases were in other provinces (detectable rate was 62.5%) , χ2=6.00, 0.01〈P〈0.05. 15 cases of the infants' mothers came from Guangxi province (accounted for 50%) , 3 cases from Guizhou province (accounted for 10%) , 6 cases from Guangdong Province (accounted for 20%) , and 1 case respectively from Gansu, Henan, Zhejiang, Fujian, Hainan and Sichuan (respectively accounted for 3.33%) . Conclusion: The morbidity of neonatal G6PD deficiency in this region is lower than that in the south. However, the influx of population in high incidence area can increase the incidence of the local area. Therefore, the influx population who come from high incidence area should be taken full attention, and early intervention for infants and health education for parents should be implemented to avoid mortality and mental retardation induced by kernicterus.
出处
《中国优生与遗传杂志》
2016年第6期77-78,共2页
Chinese Journal of Birth Health & Heredity