《中国自身炎症性疾病基因诊断指南》计划书
Protocol for the Development of the Guidelines for the Genetic Diagnosis of Autoinflammatory Diseases in China
查看参考文献20篇
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文摘
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自身炎症性疾病(autoinflammatory diseases,AIDs)已被定义20余年,目前发现单基因AIDs共56种,其症状交叉重叠,易误诊、误治,此外不同AIDs的遗传变异特点不同,且中国人群中部分AIDs具有独特的遗传特点。我国目前尚无基于循证医学的AIDs基因诊断指南。为进一步规范AIDs的早期识别和精准诊断,由中国药师协会罕见病用药工作委员会和中华医学会儿科学分会免疫学组联合发起,中国医学科学院北京协和医院儿科组织全国多学科专家参考《世界卫生组织指南制订手册》,注册并撰写了《中国自身炎症性疾病基因诊断指南》计划书,并将遵循循证指南制订流程,制订和发布正式指南文件,以科学指导AIDs的临床诊疗工作。本文主要介绍该指南的背景、意义、目的、目标人群、使用人群、指南制订组成员及制订流程等关键信息。 |
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其他语种文摘
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Autoinflammatory diseases (AIDs) were defined over 20 years ago,and since then,56 monogenic AIDs have been discovered.Due to the overlapping symptoms,AIDs are prone to misdiagnosis and mistreatment.Different AIDs are characterized by distinct genetic variants,and some AIDs have shown unique genetic characteristics in the Chinese population.Currently,there is no evidence-based guideline for the genetic diagnosis of AIDs in China.To further standardize the early recognition and precision diagnosis of AIDs,it is urgently needed to develop evidence-based clinical practice guidelines on the genetic diagnosis of AIDs to provide scientific guidance for the clinical management of AIDs.The Chinese Pharmacists Association Rare Diseases Medication Working Committee and the Subspecialty Group of Immunology from the Society of Pediatrics of the Chinese Medical Association have jointly launched a protocol for the development of the Guidelines for the Genetic Diagnosis of Autoinflammatory Diseases in China,which was registered and written following WHO Handbook for Guideline Development with the help of nationwide multidisciplinary experts organized by the Department of Pediatrics,Peking Union Medical College Hospital.A formal document of the guidelines will be devised and published following the workflow of evidence-based guideline development.This paper introduces the Guidelines for the Genetic Diagnosis of Autoinflammatory Diseases in China,including its background,significance,objectives,target population,guideline users,guideline working group members,and the workflow of guideline development. |
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来源
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协和医学杂志
,2023,14(2):241-246 【核心库】
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DOI
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10.12290/xhyxzz.2023-0077
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关键词
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自身炎症性疾病
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基因
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诊断
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指南
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计划书
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地址
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中国医学科学院北京协和医院儿科, 北京, 100730
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中国药师协会罕见病用药工作委员会, 北京, 100730
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儿童风湿免疫病联盟, 北京, 100730
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中国医学科学院北京协和医院医学科学研究中心, 北京, 100730
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中华医学会儿科学分会免疫学组, 北京, 100730
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语种
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中文 |
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文献类型
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研究性论文 |
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ISSN
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1674-9081 |
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学科
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内科学 |
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基金
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国家重点研发计划
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中央高水平医院临床科研专项
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文献收藏号
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CSCD:7453287
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