液相串联质谱技术在高危婴幼儿遗传代谢病临床筛查诊断中的应用研究

Application of liquid chromatography tandem mass spectrometry method from dry blood spots for the screening of inherited metabolic disease

目的探讨液相串联质谱(LC-MS/MS)技术在遗传代谢病高危儿童筛查中的应用价值,并为科学防治提供参考。方法采用血滤纸片对246例可疑遗传代谢病患儿采集血液样本,利用LC-MS/MS技术进行血液样本筛查,上述患儿均在宁夏医科大学总医院或银川地区其他综合性医院就诊。结果 LC-MS/MS筛查结果30例患儿阳性,阳性率为12.2%,其中9例患儿为甲基丙二酸血症,4例患儿为异戊酸血症,6例患儿为苯丙酮尿症,2例患儿为丙酸血症,1例患儿瓜氨酸血症,1例患儿为长链酰基辅酶A脱氢酶缺乏症,1例为线粒体三功能蛋白缺乏症,1例患儿患糖尿病,3例患儿同型胱氨酸尿症,2例患儿精氨酸琥珀酸尿症。结论 LC-MS/MS技术在遗传代谢病的筛查诊断中高效、准确,是遗传代谢病筛查的有效工具。

Objective To explore the application value of liquid chromotography tandem mass spectrometry（LC-MS/MS）in screening of inherited metabolic disease risk children,and to provide a reference for the scientific prevention and control.Methods 246 cases of patients with inherited metabolic children blood samples were collected through the blood spots,LC-MS/MS was used to examine blood samples from high risk cases of inherited metabolic who came from general hospital of Ningxia medical university. Results 30 cases were confirmed with inherited metabolic disease by the LC-MS/MS,the positive rate was 12.2%,including 9 cases of methylmalonic academia,4cases of isovaleric acidemia,6 cases of phenylketonuria,2 cases of propionic acidemia,2 cases of citrullinemia,1 cases of very long-chain acyl-CoA dehydrogenase,1cases of mitochondrial trifunctional protein deficiency,1 cases of maple syrup urine disease,3 cases of homocystinuria,2 cases of argininesuccinic aciduria.Conclusion Liquid chromatography tandem mass spectrometry（L-MS/MS）technology is highly efficient and high reliability method in screening inherited metabolic disease.