应用气相色谱质谱法筛查遗传代谢病高危患儿179例的研究.docVIP

应用气相色谱质谱法筛查遗传代谢病高危患儿179例 摘要 目的 通过气相色谱质谱联用仪对遗传代谢病高危患儿的尿液进行生化分析，以期为临床诊断和治疗提供依据 方法 收集2011年8月3日——2012年1月7日期间179例遗传代谢病高危患儿尿液样本，经过尿素酶去除尿素、萃取有机酸、硅烷化反应后，应用气相色谱质谱联用仪进行化学分析，分析软件进行疾病诊断 结果 179例高危患者中共发现16例（9.04%）有机酸尿症患者，其中甲基丙二酸尿症患者8例（50%）、苯丙酮尿症患者2例（12.5%），酪氨酸尿症患者2例（12.5%），酮症性二羧基酸尿症患者2例（12.5%），甘油尿症和高乳酸尿症患者各1例（6.25%）。大部分放弃治疗，一例甲基丙二酸尿症患者和低酮症性轻度二羧基酸尿症患者经临床干预获得良好后果。结论 应用气相色谱质谱联用仪是筛查某些遗传代谢病的有效方法。 关键词：遗传代谢病；气相色谱质谱联用仪；甲基丙二酸尿症；有机酸尿症 Abstract Objective: To study the application of gas chromatography-mass spectrometry (GC-MS) in the screening organic acidurias to inherited metabolic diseases. Method: Urine samples from 179 patients suspected to have inherited metabolic diseases were collected from August 3, 2011 to January 7, 2012. After urea was removed by urease, organic acids were extracted and Silanization reaction was treated, urine organic acid was analyzed with GC/MS solution and Inborn errors of metabolism screening system. Result: 16 patients (9.04%) had organic aciduria. 8 (50%) were methylmalonic aciduria, 2 (12.5%) were phenylketonuria, 2 (12.5%) were tyrosinuria, 2 (12.5%) ketosis dicarboxylic aciduria, 1 (6.25%) was glyceroluria and 1 (6.25%) was lactic aciduria. Most of them had abandoned the treatment. Only two cases were treated by drug and diet. Conclusion: Application of gas chromatography-mass spectrometry in screening of certain genetic and metabolic diseases was effective. Key word: inherited metabolic diseases; gas chromatography-mass spectrometry; methylmalonic aciduria; organic aciduria. 遗传代谢病(inherited metabolic diseases, IMD)又称先天代谢缺陷（inborn errors of metabolism），是有代谢功能缺陷的一类遗传病，多为单基因遗传病，包括氨基酸、有机酸、脂肪酸等先天性的代谢缺陷。目前已命名了600余种遗传代谢病，总发病率约占人口的1%。该类疾病可在婴幼儿时即发病，可表现为急性脑病，造成痴呆、脑瘫、甚至昏迷、死亡等严重并发症，给家庭和社会带来严重负担[1, 2]。大多遗传代谢性疾病临床表现缺乏特异性，其病因诊断需要借助实验室检查。为了明确山东省遗传代谢病的发病概况及早期诊断干预该类疾病患儿，降低伤残率，本院于今年引进了气相色谱质谱联用仪，并与八月份开展了对遗传代谢病高位患儿的尿有机酸代谢筛查。2011年8月3日——2012年1月7日，本实验室共筛查高危患儿尿液样本179例，检出有机酸尿症患儿16例。现总结报告如下： 材料和方法 主要试剂与仪器 GC-MS QP2010 ultra 购自日本岛津；DB-5（30m×0.25mm×1.00um）购自J＆W Scientific公司；载气为高