遗传性代谢病高危患儿尿有机酸的筛查  

Screening of Urinary Organic Acid in Children with High Risk of Inherited Metabolic Diseases

作　　者：曾凡勇[1,2] 吴卫红[1,2] 刘建军[1,2] 张雁[1,2] 李南玲[1,2] 席冰玉[1,2] 

机构地区：[1]首都医科大学康复医学院,北京市100068 [2]中国康复研究中心北京博爱医院,北京市100068

出　　处：《中国康复理论与实践》2016年第8期947-951,共5页Chinese Journal of Rehabilitation Theory and Practice

摘　　要：目的探讨气相色谱质谱技术（GC/MS）在遗传性代谢病高危患儿筛查中的应用。方法 2010年3月~2015年11月,疑有遗传性代谢病患儿119例,采用GC/MS检测尿液中有机酸的含量,对相关疾病进行筛查。结果阳性17例（14.29%）,可疑阳性20例（16.81%）。阳性患儿主要表现为发育落后16例（94.12%）。结论 GC/MS是筛查遗传性代谢病高危患儿病因的一种有效措施,可为进一步明确诊断提供筛查依据。Objective To explore the application of gas chromatography mass spectrometry（GC/MS） in children with high risk of inherited metabolic disease.Methods From March,2010 to November,2015,119 children suspected with inherited metabolic disease were included.The urinary organic acid was detected with GC/MS,and related diseases were screened.Results Seventeen children（14.29%） were positive with inherited metabolic disease,in which 16 cases（94.12%） manifested with development retardation.20 children（16.81%） were probable positive.Conclusion GC/MS is effective in screening children with high risk of inherited metabolic disease,which can provide basis for further diagnosis.

关 键 词：遗传性代谢病 气相色谱质谱 有机酸 筛查 

分 类 号：R722.11[医药卫生—儿科]