《中国康复理论与实践》

《中国康复理论与实践》

• 临床研究 • 上一篇    下一篇

遗传性代谢病高危患儿尿有机酸的筛查①

曾凡勇，吴卫红，刘建军，张雁，李南玲，席冰玉   

  1. 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。
  • 出版日期:2016-08-25 发布日期:2016-09-22

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

ZENG Fan-yong, WU Wei-hong, LIU Jian-jun, ZHANG Yan, LI Nan-ling, XI Bing-yu   

  1. 1. Capital Medical University School of Rehabilitation Medicine, Beijing 100068, China; 2. Beijing Bo'ai Hospital, China Rehabilitation Research Centre, Beijing 100068, China
  • Published:2016-08-25 Online:2016-09-22

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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。

关键词: 遗传性代谢病, 气相色谱质谱, 有机酸, 筛查

Abstract: 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.

Key words: inherited metabolic disease, gas chromatography mass spectrometry, organic acid, screening