菏泽地区263027例新生儿遗传代谢病筛查及治疗随访情况分析

Analysis of screening and follow-up treatment of genetic metabolic diseases in 263027 neonates in Heze city

目的通过总结菏泽市采用串联质谱技术进行新生儿遗传代谢病筛查情况,分析我市遗传代谢病发病率、疾病种类及治疗随访。方法收集2015年9月—2020年11月菏泽市各县区263027例新生儿足跟血干血片,采用串联质谱技术(非衍生法)进行遗传代谢病筛查,并对遗传代谢病确诊情况、发病率及患儿治疗、预后进行随访分析。结果累积筛查的263027例新生儿中,可疑阳性人数10059例,初筛阳性率为3.8%。经过进一步相关生化指标,共确诊遗传代谢病213例(总患病率为1/1235),其中包括氨基酸代谢病84例(39.4%)、有机酸代谢病105例(49.3%)、脂肪酸氧化障碍疾病24例(11.3%)。结论菏泽地区遗传代谢病病种繁多,发病率明显高于国内其他地区,经过及时针对性的治疗大多预后良好。通过加强新生儿疾病筛查工作及诊治能力,可降低致残率、死亡率,提高患儿生活质量。

Objective To analyze the incidence,disease types and treatment follow-up of genetic and metabolic diseases in Heze city,the newborn genetic metabolic diseases were screened by tandem mass spectrometry.Methods A total of 263027 neonatal heel dried blood samples were collected from Heze from September 2015 to November 2020.The genetic metabolic diseases were screened by tandem mass spectrometry(non derivative method).The diagnosis and incidence of inherited metabolic diseases(IMDs),as well as the treatment and prognosis of the children were analyzed.Results Among 263027 neonates,10059 were suspected to be positive,with a positive rate of 3.8%at first screening.A total of 213 cases(the total prevalence was 1/1235)of IMDs were confirmed by further biochemical indicators,including 84 cases(39.4%)of amino acid metabolic diseases,105 cases(49.3%)of organic acid metabolic diseases,and 24 cases(11.3%)of fatty acid oxidation disorders.Conclusion There are many kinds of diseases and genetic diseases in Heze city,and the incidence rate is much higher than that in other areas of China.Through strengthening neonatal disease screening and diagnosis and treatment ability,the disability rate and mortality can be reduced,and the quality of life of children can be improved.