实验室筛查与诊断新技术在遗传代谢病中的应用价值

Discussion on the application of new laboratory screening and diagnosis techniques in genetic metabolic diseases

目的 探讨实验室筛查与诊断新技术在遗传代谢病中的应用价值。方法 选取2019年1月—12月于本院就诊的568例可疑遗传代谢病患儿为研究对象,采集所有可疑患儿的尿液标本并利用气相色谱质谱联合分析技术进行检测,分析其检测结果。结果 568例可疑患儿中确诊遗传代谢病患儿15例,占比2.64%,其中苯丙酮尿症10例,甲基丙二酸血症、希特林蛋白缺乏症和极长链酰基辅酶A脱氢酶缺乏症各1例,短链酰基辅酶A脱氢酶缺乏症2例。结论 采用气相色谱质谱联合分析的新技术检测可疑遗传代谢病患儿,具有较好的应用效果,可显著提高疾病筛查率,利于早期诊断及治疗遗传代谢病。

Objective To explore the application of new laboratory screening and diagnosis techniques in genetic metabolic diseases.Methods 568children with suspected genetic metabolic diseases who visited our hospital from January to December 2019 were selected as the research sbjects.Urine samples of all suspected children were collected and detected by gas chromatography-mass spectrometry(GC-MS).The results were recorded and analyzed.Results Among the 568 suspected children,15 were diagnosed with genetic metabolic diseases,accounting for 2.64%,including 10 cases of phenylketonuria,1 case of methylmalonate,1 case of Sitrin,1 case of very long acyl co A dehydrogenase deficiency,and 2 cases of short acyl COA-dehydrogenase deficiency.Conclusion The new technique of gas chromatography-mass spectrometry(GC-MS) combined with analysis has better application effect,and its screening rate is significantly increased,which is conducive to the early diagnosis and treatment of genetic metabolic diseases.