专家笔谈

合理应用遗传代谢相关性疾病体外检测诊断技术

  • 邹丽萍
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  • 中国人民解放军总医院儿童医学中心( 北京 100853)

收稿日期: 2014-11-15

  网络出版日期: 2014-11-15

Appropriate use of in vitro techniques in diseases associated with genetic metabolic disorders

  • ZOU Liping
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  • Children’s Medical Center, The General Hospital of The People’s Liberation Army, Beijing, 100853, China

Received date: 2014-11-15

  Online published: 2014-11-15

摘要

遗传代谢病是一大类临床症状复杂的疑难杂症,目前明确诊断还必须依靠代谢物分析、基因分析和酶活性(蛋白质功能)分析三种技术方法。文章通过对这三种诊断方法的特点及临床应用进行分析、比较和归纳,以期为临床工作者更好地运用三种方法提供一些经验参考。在临床工作中要充分认识三种方法的不同特点,恰当、灵活地运用,扬长避短,使三者有机结合,科学、正确地应用于遗传代谢病的诊断。

本文引用格式

邹丽萍 . 合理应用遗传代谢相关性疾病体外检测诊断技术[J]. 临床儿科杂志, 2014 , 32(11) : 1001 . DOI: 10.3969 j.issn.1000-3606.2014.11.001

Abstract

Inherited metabolic disorder is a major class of clinical diseases with complexity and difficulty of being diagnosed. Current clinical diagnosis has to rely on the metabolite analysis, gene analysis and enzyme activity (protein function) analysis of these three techniques. We analyse the features of the three diagnostic methods and clinical application of analysis, comparison and induction, to provide some experience and reference that help clinicians to better use of these three techniques. These three ways should be organically combined to form a diagnostic platform for inherited metabolic disorders.
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