气相色谱-质谱联用技术在遗传代谢病诊断和治疗监测中的应用

发布时间：2018-03-05 00:14

本文选题：气相色谱质谱　切入点：遗传代谢病　出处：《广东医学》2017年19期 　论文类型：期刊论文

【摘要】：目的探讨利用气相色谱-质谱(GC-MS)联合分析技术在遗传代谢病的筛查和诊断中的意义,为疾病的诊断和治疗提供依据。方法收集住院和门诊2 856例疑似遗传代谢病患者的尿液,通过去蛋白、尿素酶处理、肟化酮酸、萃取、除水、硅烷衍生化等处理,应用GC-MS进行样本有机酸检测,所得检测数据通过遗传代谢病软件分析,同时结合串联质谱氨基酸和酰基肉碱检测结果及基因分析进一步疾病诊断。结果对2 856例疑似患者的尿液标本有机酸分析,确诊先天性遗传代谢疾病342例(11.9%),其中苯丙酮尿症154例(5.39%),甲基丙二酸尿症为57例(2.00%),丙酸尿症34例(1.19%),希特林蛋白缺乏症34例(1.19%),戊二酸尿症Ⅰ型27例(0.95%),异戊酸尿症5例(0.18%),鸟氨酸氨甲酰转移酶缺乏症2例(0.07%),全羧化酶合成酶缺乏症2例(0.07%),短链酰基辅酶A脱氢酶缺乏症5例(0.18%),中链酰基辅酶A脱氢酶缺乏症12例(0.42%),多种酰基辅酶A缺乏症3例(0.11%),3-甲基巴豆酰甘氨酸2例(0.07%),5-氧合脯酸胺尿症、甲基丙二酸半醛脱氢酸缺乏症、黑酸尿症、泽尔韦格氏综合症、卡纳万氏综合症、枫糖尿症各1例(0.04%)。继发性代谢障碍或感染269例(9.42%),确诊患者中1例枫糖尿症、2例MMA患者死亡,2例失访,随访率98.2%,对患者采取跟踪、随访治疗,临床上取得较好的治疗效果。结论 GC-MS是遗传代谢病诊断的可靠方法,监测尿中特异性标志物浓度水平变化为治疗提供有效的手段。
[Abstract]:Objective to explore the significance of gas chromatography-mass spectrometry (GC-MS) combined analysis in the screening and diagnosis of genetic metabolic diseases and to provide evidence for the diagnosis and treatment of the diseases. Methods the urine samples of 2 856 patients with suspected genetic metabolic diseases were collected. GC-MS was used to detect the organic acids in the samples after protein removal, urease treatment, oximation ketoacid, extraction, water removal, silane derivation and so on. The detected data were analyzed by genetic metabolic disease software. Combined with the analysis of amino acid and acyl carnitine in tandem mass spectrometry and gene analysis to diagnose the disease, the organic acids in urine samples of 2 856 suspected patients were analyzed. 342 cases of congenital genetic metabolic diseases were diagnosed, including 154 cases of phenylketonuria, 57 cases of methylmalonuria, 34 cases of propionuria, 34 cases of protein deficiency, 34 cases of Khitrin protein deficiency, 27 cases of glutaric acid urine type I and 5 cases of isopentanuria, respectively. 0.18%, 2 cases of ornithine carbamyltransferase deficiency, 0.07% of total carboxylase synthase deficiency, 0.07% of total carboxylase synthase deficiency, 5 cases of short chain acylcoenzyme A dehydrogenase deficiency, 0.18% of short chain acyl coenzyme A dehydrogenase deficiency, 12 cases of intermediate chain acyl coenzyme A dehydrogenase deficiency, and 0.42 2% of polyacylcoenzyme A deficiency. 3 cases with 0. 11% and 2 cases with 3-methyl crotonyl glycine, 2 cases with 0. 07% 5-oxoproline urine, Methylmalonic acid hemialdehyde-dehydrogenated acid deficiency, melanuria, Zell Weger syndrome, Kanawan syndrome, One case of maple syrup urine (n = 1), one case (n = 0.04) of secondary metabolic disorder or infection, 269 cases (9.42%) were found to have secondary metabolic disorder or infection. 2 cases (2 cases) died of MMA in 1 case of maple maple glycosuria, and the follow-up rate was 98.2%. The patients were followed up and treated. Conclusion GC-MS is a reliable method for the diagnosis of genetic metabolic diseases, and monitoring the concentration of specific markers in urine provides an effective method for the treatment.
【作者单位】：广东省妇幼保健院儿童遗传代谢与内分泌科;
【基金】：广东省医学科学技术研究基金项目(编号:A2017305)
【分类号】：R725.8

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