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目的:了解重庆地区儿童46种遗传代谢性疾病的筛查及发病情况。方法:收集2011年1月1日~2013年10月15日来自重庆地区30个区县送检标本20 331份,采用串联质谱技术对46种遗传代谢疾病进行筛查。结果:重庆地区46种遗传代谢病筛查覆盖情况:送检血标本数以重庆主城地区最多,共计6 758份,其次为渝东南地区,主城1 h经济圈地区,渝东北地区,渝西地区。遗传代谢病筛查阳性结果分析:筛查出阳性病例共计47例,阳性率为0.23%;其中氨基酸代谢异常21例,占44.68%;有机酸代谢异常22例,占46.81%;脂肪酸氧化代谢异常4例,占8.51%。结论:重庆地区46种遗传代谢性疾病筛查覆盖范围较广,筛查阳性率为0.23%,需引起临床医生足够重视,早期发现异常并进行早期干预,可有效减少遗传代谢性疾病的危害。
Objective: To understand the screening and incidence of 46 genetic metabolic diseases in children in Chongqing. Methods: Totally 20 331 samples from 30 districts and counties in Chongqing area were collected from January 1, 2011 to October 15, 2013. 46 kinds of genetic metabolic diseases were screened by tandem mass spectrometry. Results: The screening coverage of 46 kinds of genetic metabolic diseases in Chongqing: The number of blood samples submitted for examination was the most in Chongqing’s main city with a total of 6 758 copies, followed by southeastern Chongqing, 1 h economic circle in main city, northeast Chongqing, West area. Positive results of genetic metabolic disease screening: a total of 47 positive cases were screened, the positive rate was 0.23%; among them, 21 cases were abnormal amino acid metabolism, accounting for 44.68%; 22 cases were abnormal organic acid metabolism, accounting for 46.81%; fatty acid metabolism was abnormal 4 cases, accounting for 8.51%. Conclusion: The screening of 46 kinds of genetic metabolic diseases in Chongqing covers a wide range and the positive rate of screening is 0.23%. Clinicians should pay enough attention to them. Early detection of abnormalities and early intervention can effectively reduce the risk of genetic metabolic diseases.