禹松林;王丹晨;邹雨桐;马晓丽;邱玲;
YU Songlin;WANG Danchen;ZOU Yutong;MA Xiaoli;QIU Ling;Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College;

• 1:中国医学科学院北京协和医学院北京协和医院检验科疑难重症及罕见病国家重点实验室

摘要(Abstract)：

罕见病具有种类多、发病率低、诊治困难等特点,近年来备受国家重视。常规实验室检测项目往往不能满足罕见病的诊断需求,液相色谱串联质谱(liquid chromatography-tandem mass spectrometry, LC-MS/MS)技术以其特异度高、可同时区分/定量多种代谢物等特点而广泛受到临床关注,正逐渐从科研应用走向实践前沿。本文以我国第一批罕见病目录为主线,分析LC-MS/MS技术在罕见病诊断中的临床应用现状及前景。
Rare diseases, with the characteristics of abundant species, low prevalence, and difficulty in diagnosis and treatment, have drawn more and more attention from our country in recent years. Usually, conventional laboratory tests can not meet the requirements for the diagnosis of rare diseases. Due to its high specificity, the ability of simultaneously differentiating and quantifying various metabolites, and so on, liquid chromatography-tandem mass spectrometry(LC-MS/MS) has attracted wide attention in clinical laboratories, and been gradually moving from scientific research to the forefront of clinical practice. Based on the first batch of rare diseases published in China, we summarized in this study the status and prospect of LC-MS/MS in the clinical application of diagnosing rare diseases.

关键词(KeyWords)： 液相色谱串联质谱;罕见病;临床应用
liquid chromatography-tandem mass spectrometry;rare diseases;clinical application

Abstract:

Keywords:

基金项目(Foundation): 北京市临床重点专科医学检验科卓越项目(ZK201000);; 首都卫生发展科研专项(2020-1-4014);; 郑洛新国家自主创新示范区创新引领型产业集群专项(201200211100)~~

作者(Authors): 禹松林;王丹晨;邹雨桐;马晓丽;邱玲;
YU Songlin;WANG Danchen;ZOU Yutong;MA Xiaoli;QIU Ling;Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College;

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