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目的了解泰安市新生儿遗传代谢病发病情况。方法对泰安市1999年6月至2012年12月定点助产单位采集的新生儿遗传代谢病血样检测资料进行分析。结果 1999年6月至2012年12月,泰安市累计活产791 846人,参与先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)筛查的790 261人,增加先天性肾上腺皮质增生症(CAH)和葡萄糖-6-磷酸脱氢酶缺乏症后,筛查人数为153 412人,筛查率为99.80%。累计确诊遗传代谢病381例,发病率为48.21/10万。其中,CH发病率为27.96/10万;PKU发病率为15.94/10万;CAH发病率为5.21/10万;G6PD发病率为16.94/10万。1999~2012年新生儿遗传代谢病平均发病率,泰山区为37.24/10万,岱岳区为60.55/10万,新泰市为53.07/10万,肥城市为44.58/10万,宁阳县为51.93/10万,东平县为45.89/10万;男性为45.65/10万,女性为51.02/10万。结论泰安市1999~2012年新生儿遗传代谢病发病率较高,发现的新生儿遗传代谢病主要是CH和PKU。
Objective To understand the incidence of neonatal genetic metabolic disease in Tai’an. Methods The data of blood samples of neonatal inherited metabolic diseases collected from designated midwifery unit from June 1999 to December 2012 in Tai’an City were analyzed. Results From June 1999 to December 2012, a total of 791 846 live births were reported in Tai’an City, which involved 790 261 people who had CHD and PKU screening and increased congenital adrenal cortex After proliferative disease (CAH) and glucose-6-phosphate dehydrogenase deficiency, 153 412 people were screened and the screening rate was 99.80%. A total of 381 cases of inherited metabolic diseases were diagnosed, with a prevalence of 48.21 / 100,000. Among them, the incidence of CH was 27.96 / 100000; the incidence of PKU was 15.94 / 100000; the incidence of CAH was 5.21 / 100000; the incidence of G6PD was 16.94 / 100000. The average incidence of neonatal genetic metabolic disease from 1999 to 2012 was 37.24 / 100000 in Taishan District, 60.55 / 100000 in Daiyue District, 53.07 / 100000 in Xintai City and 44.58 / 100000 in Feicheng City. Ningyang County 51.93 / 100000, 45.89 / 100000 in Dongping County; 45.65 / 100000 for males and 51.02 / 100000 for females. Conclusion The incidence of hereditary metabolic diseases in newborns in Tai’an from 1999 to 2012 is higher than that of CH and PKU.