福建省泉州地区新生儿有机酸血症的发病率与疾病谱筛查结果分析  

Systematic Analysis of the Incidence and Disease Spectrum of Organic Academia Newborn Screening Results in Quanzhou,Fujian Province

作　　者：钟锦平[1] 傅清流[1] 林壹明 ZHONG Jin-ping;FU Qing-liu;LIN Yi-ming(Department of Clinical Laboratory,Quanzhou Maternity and Children’s Hospital,Fujian Quanzhou 362000,China)

机构地区：[1]泉州市儿童医院检验科

出　　处：《现代检验医学杂志》2019年第5期52-55,共4页Journal of Modern Laboratory Medicine

基　　金：泉州市科技计划项目(2018N085S)

摘　　要：目的了解福建省泉州地区新生儿有机酸血症(organic academia,OA)筛查的发病率及疾病谱特征。方法采用串联质谱技术对泉州地区364545例新生儿干血斑样本进行遗传代谢病筛查,应用高通量测序技术结合Sanger测序法对可疑阳性患儿进行致病基因检测,统计分析泉州及其他地区OA的新生儿筛查数据。结果364545例筛查的新生儿中,明确诊断OA患儿39例,OA总发病率为1∶9347。共确诊OA7种,其中最常见的为2-甲基丁酰辅酶A脱氢酶缺乏症12例(30.8%),其次为戊二酸血症I型7例(17.9%),其余的分别为异丁酰辅酶A脱氢酶缺乏症6例(15.4%)、3-甲基巴豆酰辅酶A脱氢酶缺乏症5例(12.8%)、异戊酸血症4例(10.3%)、甲基丙二酸血症3例(7.7%)和丙酸血症2例(5.1%)。此外,该研究检出4例母源性OA,分别为戊二酸血症I型和3-甲基巴豆酰辅酶A脱氢酶缺乏症各2例。结论该研究系统回顾分析了泉州地区新生儿OA的筛查概况,泉州地区OA的总发病率较高,OA疾病谱与其他地区不同,最常见的三种OA为2-甲基丁酰辅酶A脱氢酶缺乏症、戊二酸血症I型和异丁酰辅酶A脱氢酶缺乏症。OA临床异质性大,发病率及疾病谱的阐明将为该地区的新生儿筛查提供科学依据与指导。Objective To investigate the characteristics of newborn screening for organic academia(OA),the incidence and disease spectrum in Quanzhou.Methods A total of 364 545 neonates in Quanzhou were screened for inherited metabolic diseases by tandem mass spectrometry.High-throughput sequencing combined with Sanger sequencing was used to detect the relevant pathogenic genes in suspected positive patients,statistical analysis of OA newborn screening data in Quanzhou and other regions.Results Among the 364 545 screening newborns,39 patients were diagnosedwith OA,the overall incidence of OA was 1∶9 347.Seven cases of OA were diagnosed,the most common of which was 2-methylbutyryl-CoA dehydrogenase deficiency in 12 cases(30.8%),followed by glutaric acid-induced type I in 7 cases(17.9%).The remaining were isobutyryl-CoA dehydrogenase deficiency in 6 cases(15.4%),3-methylcrotonyl-CoA dehydrogenase deficiency in 5 cases(12.8%),and isovaleric acid in 4 cases(10.3%),methylmalonic acidemia in 3 cases(7.7%),and propionic acidemia in 2 cases(5.1%).In addition,4 cases of maternal OA were detected,including two cases of glutaric acid type I and two cases of 3-methyl crotonyl-CoA dehydrogenase deficiency.Conclusion This study systematically reviewed the OA newborn screening results in Quanzhou and findings showed that the total incidence of OA in Quanzhou was higher.The disease spectrum of OA was different from other regions.The most common OA was 2-methylbutyryl-CoA dehydrogenase deficiency glutaric acid type I,and isobutyryl-CoA dehydrogenase deficiency.The OA had obvious clinical heterogeneity,the clarification of the incidence and disease spectrum would provide scientific evidence and guidance for newborn screening in the region.

关 键 词：有机酸血症 新生儿筛查 发病率 疾病谱 

分 类 号：R722.11[医药卫生—儿科] Q503[医药卫生—临床医学]