串联质谱在遗传代谢性疾病筛查中的应用

Application of tandem mass spectrometry in genetic metabolic disease screening

目的研究串联质谱技术在儿科遗传代谢病筛查中的价值。方法对132例疑似遗传代谢病患儿采用串联质谱(Tandem mass spectrum,MS/MS)及气相色谱/质谱(Gas chromatography/Mass spectrometry,GC/MS)技术进行遗传代谢性疾病的筛检。结果 132例患儿中确诊为先天性遗传代谢病者分别为高苯丙氨酸血症35例,线粒体能量代谢障碍2例,二羧酸尿症2例,甲基丙二酸血症2例,丙酸血症1例,鸟氨酸氨甲酰基转移酶缺乏症(OTCD)1例。OTCD先证者及其父母作了基因测序,先证者检出c.626C>T(p.A209V)突变基因,其母孕二胎时产前作了羊水及细胞培养基因分析未见突变基因,产后婴儿作了MS/MS、GC/MS分析未见异常。结论串联质谱技术可分析代谢物质浓度水平,可对遗传代谢病进行筛查,有利于临床确诊病因,减少医疗纠纷发生,对再生育者进行产前筛查有利于优生优育,值得推广应用。

Objective：To investigate the value of tandem mass spectrometry in pediatric genetic metabolic disease screening. Methods：Tandem mass spectrometry（MS/MS）and Gas chromatography/Mass spectrometry（GC/MS）were applied to screen 132 cases of suspected inherited metabolic disease in children. Results：There were 35 cases of hyperphenylalaninemia,2 cases of mitochondrial energy metabolism,2 cases of dicarboxylic aciduria,2 cases of methylmalonic acidemia,1 case of propionic acidemia and 1 case of ornithine carbamoyl transferase deficiency（OCTD）which had been diagnosed throughout the 132 infant. OTCD gene sequencing was applied on proband and parents,and c.626CT（p.A209V）was detected on the proband. Chromosome analysis of amniotic fluid and cell culture was used on the mother when she pregnant the second child. However,there was no mutation gene be found. MS/MS and GC/MS were applied on this baby and no abnormalities were found. Conclusion：Concentration level of metabolism substance can be analyzed and genetic metabolic disease can be screened by MS/MS to diagnose clinical etiology and reduce medical disputes. There are a lot of advantages of prenatal screening to people who wants to re-birth,so it is worth to be promoted.