《中国康复理论与实践》

《中国康复理论与实践》 ›› 2015, Vol. 21 ›› Issue (01): 93-095.

• 临床观察 • 上一篇    下一篇

发育落后患儿遗传性代谢病血液筛查结果分析

曾凡勇，吴卫红，刘建军，张雁，席冰玉，李南玲
   

  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。
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2015-01-25 发布日期:2015-01-25

Inherited Metabolic Diseases Screening in Children with Developmental Retardation: 97 Cases Report

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

  1. Capital Medical University School of Rehabilitation Medicine, China Rehabilitation Research Centre, Beijing 100068, China
  • Received:1900-01-01 Revised:1900-01-01 Published:2015-01-25 Online:2015-01-25

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摘要： 目的总结以发育落后为主要表现、疑有遗传性代谢病患儿的血液筛查结果。方法2010 年3 月~2013 年10 月采用串联质谱检查技术检测滤纸片中酰基肉碱和氨基酸等小分子代谢物含量，对相关疾病进行筛查。结果共筛查97 例患儿，其中阳性3 例(3.09%)，可疑阳性55 例(56.7%)。结论串联质谱检查是筛查发育落后患儿病因的一种有效措施。

关键词: 遗传性代谢病, 发育落后, 串联质谱检查, 血液筛查

Abstract: Objective To summarize the result of blood examination for the children with the developmental retardation and suspected inherited metabolic diseases. Methods Tandem mass spectrometry was used to detect the small molecule metabolites content of acylcarnitine and amino acid in filter paper in 97 children from March 2010 to October 2013. Results There were 3 cases of positive (3.09%), 55 of suspicion (56.7%). Conclusion Tandem mass spectrometry is valuable to screen etiology for children with developmental retardation.

Key words: inherited metabolic diseases, developmental retardation, tandem mass spectrometry, blood screening