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目的分析研究广东省顺德区2001年7月至2012年9月新生儿葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)、先天性甲状腺功能减低症(CH)与苯丙酮尿症(PKU)的发病率及干预治疗效果评价。方法顺德区筛查网络出生新生儿,G6PD应用荧光分析法葡萄糖-6-磷酸脱氢酶、PKU应用荧光分析法测定血苯丙氨酸(Phe)浓度、CH应用时间分辨荧光免疫分析法测定促甲状腺激素(TSH),共260 756例。结果顺德区新生儿G6PD发病率4.04%(1∶25),略高于广州市;CH发病率0.46‰(1∶2155),高于全国及广东平均水平;PKU发病率0.027‰(1:37251),低于全国平均水平。经过规范干预治疗的10554例G6PD、121例CH和7例PKU患儿智能与正常同龄儿比较,达到正常水平。结论总结分析出顺德区新生儿葡萄糖-6-磷酸脱氢酶缺乏症、先天性甲状腺功能减低症与苯丙酮尿症发病率及干预治疗情况,为筛查及治疗工作提供可靠科学依据,推动本地区新生儿筛查工作开展,提高儿童保健水平。
Objective To analyze the effects of neonatal glucose-6-phosphate dehydrogenase deficiency (G6PD), congenital hypothyroidism (CH) and phenylketonuria (PKU) from July 2001 to September 2012 in Shunde District of Guangdong Province Morbidity and evaluation of treatment effect. Methods Neonatal newborns were born in Shunde District. G6PD was assayed for glucose-6-phosphate dehydrogenase by fluorescence spectrometry. The concentration of Phe was determined by fluorescence spectrometry in PKU. The level of Phe was determined by time-resolved fluorescence immunoassay Thyroid hormone (TSH), a total of 260 756 cases. Results The incidence of neonatal G6PD in Shunde District was 4.04% (1:25), slightly higher than that in Guangzhou City. The incidence of CH was 0.46 ‰ (1: 2155), higher than the national average and the average in Guangdong. The incidence of PKU was 0.027 ‰ (1: 37251) ), Below the national average. 10554 cases of G6PD, 121 cases of CH and 7 cases of PKU after standardized intervention were compared with normal peers to reach the normal level. Conclusions The incidence of neonatal glucose-6-phosphate dehydrogenase deficiency, congenital hypothyroidism, and phenylketonuria in Shunde District are analyzed and analyzed, providing a reliable scientific basis for screening and treatment, and promoting this Regional neonatal screening work to improve the level of child care.