CAJ | 학술논문

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-M S/M S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-M S/M S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-M S/M S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。
목적：탐토액상천련질보（LC-MS/MS）기술재유전대사병고위인동사사중적응용개치，병위과학방치제공삼고。방법채용혈려지편대246례가의유전대사병환인채집혈액양본，이용LC-M S/M S기술진행혈액양본사사，상술환인균재저하의과대학총의원혹은천지구기타종합성의원취진。결과 LC-M S/M S사사결과30례환인양성，양성솔위12．2％，기중9례환인위갑기병이산혈증，4례환인위이무산혈증，6례환인위분병동뇨증，2례환인위병산혈증，1례환인과안산혈증，1례환인위장련선기보매A탈경매결핍증，1례위선립체삼공능단백결핍증，1례환인환당뇨병，3례환인동형광안산뇨증，2례환인정안산호박산뇨증。결론 LC-M S/M S기술재유전대사병적사사진단중고효、준학，시유전대사병사사적유효공구。
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 ca-ses of methylmalonic academia ,4 cases 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 ,1 cases of mitochondrial trifunctional protein deficiency ,1 cases of maple syrup urine disease ,3 cases of homocystinuria ,2 cases of argininesuccinic aciduria .Conclusion Liquid chromatography tan-dem mass spectrometry(L-MS/MS) technology is highly efficient and high reliability method in screening inherited metabolic dis-ease .