摘要
目的通过分析吉林省长春市的尿液有机酸的原始检测结果,初步探讨尿液有机酸检测项目的相关遗传代谢疾病在吉林省长春市的发病情况以及检测数据分析。方法采用气相色谱质谱联用仪GC-MS对吉林省长春市2019年1月份到2023年5月份送检吉林金域医学有限公司尿液有机酸检测项目的结果进行分析。结果初筛阳性疾病83例,阳性率为3.93%。其中甲基丙二酸血症最多,一共有43例,阳性率为51.81%,高苯丙氨酸血症一共有10例,阳性率为12.05%,戊二酸血症–I型一共有6例,阳性率为7.23%,Citrin蛋白缺陷症一共有5例,阳性率为6.02%,丙酸血症一共有5例,阳性率为6.02%,枫糖尿病一共有4例,阳性率为4.82%,其他疾病合计为10例,阳性率合计为12.05%。结论有机酸代谢病又称有机酸尿症,是遗传代谢性疾病中最常见的病种。尿液有机酸筛查是出生后预防和治疗某些遗传代谢性疾病的有效方法,其中甲基丙二酸血症是有机酸代谢异常中最常见的遗传代谢疾病,为提高患儿的生存率与生活质量,人们必须提高认识,早发现,早诊断,早治疗。
Objective By analyzing the original detection results of urine organic acids in Changchun,Jilin Province,this study aims to explore the incidence of genetic metabolic diseases related to urine organic acid detection projects in Changchun,Jilin Province,and analyze the detection data.Methods Gas chromatography-mass spectrometry(GC-MS)was used to analyze the results of the urine organic acid detection project submitted by Jilin Jincheng Medical Co.,Ltd.in Changchun,Jilin Province from January 2019 to May 2023.Results there were 83 cases of positive diseases in the initial screening,with a positive rate of 3.93%.Among them,there were 43 cases of methylmalonic acidemia with a positive rate of 51.81%,10 cases of hyperphenylalaninemia with a positive rate of 12.05%,6 cases of glutaric acidemia type 1 with a positive rate of 7.23%,5 cases of Citrin protein deficiency with a positive rate of 6.02%,5 cases of propionaemia with a positive rate of 6.02%,4 cases of maple diabetes with a positive rate of 4.82%,and 10 cases of other diseases with a positive rate of 12.05%.Conclusion Organic acid metabolism disease,also known as organic aciduria,is the most common genetic metabolic disease.Urine organic acid screening is an effective method for preventing and treating certain genetic metabolic diseases after birth,among which methylmalonic acidemia is the most common genetic metabolic disease with abnormal organic acid metabolism.In order to improve the survival rate and quality of life of children,people must raise awareness,detect,diagnose and treat them early.
作者
高洪宇
徐春生
周婷婷
刘明珠
GAO Hong-Yu;XU Chun-Sheng;ZHOU Ting-Ting;LIU Ming-Zhu(Jilin Kingmed for Clinical Laboratory Co.,Ltd.,Changchun 130000,China)
出处
《实验室检测》
2024年第10期119-121,共3页
Laboratory Testing
关键词
尿液有机酸
气相色谱质谱联用仪
吉林省长春市
urine organic acids
gas chromatography-mass spectrometry
Changchun Jilin Province
