摘要
罕见病发病率虽然极低,但7000多种罕见病却影响着全球6%~8%的人群。罕见病临床实践指南作为改善罕见病患者健康结局的指导性文件发挥着越来越重要的作用。本文将系统阐述国内外罕见病指南的研究现状、面临的挑战以及当前的机遇,并在此基础上提出推动我国罕见病指南发展的思考与建议。
Although the incidence of rare diseases is extremely low,6%to 8%of the global population are affected by more than 7000 rare diseases.Rare diseases guidelines are playing an increasingly important role as guiding documents in improving the health outcomes of patients with rare diseases.Therefore,we aim to systemati⁃cally elaborate on the status quo,challenges and opportunities of rare disease guidelines at home and abroad,and put forward thoughts and suggestions on promoting the development of rare diseases guidelines in the future.
作者
周奇
李沁原
刘雅莉
罗征秀
张卫社
陈彤
李国保
商洪才
杨克虎
张波
陈耀龙
张抒扬
ZHOU Qi;LI Qinyuan;LIU Yali;LUO Zhengxiu;ZHANG Weishe;CHEN Tong;LI Guobao;SHANG Hongcai;YANG Kehu;ZHANG Bo;CHEN Yaolong;ZHANG Shuyang(Evidence-based Medicine Center,School of Basic Medical Sciences,Lanzhou University,Lanzhou 730000,China;Research Unit of Evidence-based Evaluation and Guidelines,Chinese Academy of Medical Sciences,School of Basic Medical Sciences,Lanzhou University,Lanzhou 730000,China;Guidelines and Standards Research Center of Chinese Medical Journals Publishing House,Beijing 100052,China;Department of Respiratory,Medicine Children's Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders,Chongqing Key Laboratory of Pediatrics,National Clinical Research Center for Child Health and Disorders,Chongqing 401122,China;Center for Clinical Epidemiology and Evidence-based Medicine,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China;Department of Obstetrics and Gynecology,Xiangya Hospital Central South University,Changsha 410008,China;Department of Hematology,Huashan Hospital,Fudan University,Shanghai 200040,China;Department of Lung Disease,the Third People's Hospital of Shenzhen,National Clinical Research Center for Infectious Disease,Shenzhen 518112,China;Key Laboratory of Chinese Internal Medicine of Ministry of Education,Beijing Dongzhimen Hospital,Beijing University of Chinese Medicine,Beijing 100700,China;Department of Pharmacy,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Cardiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)
出处
《协和医学杂志》
CSCD
2023年第3期621-628,共8页
Medical Journal of Peking Union Medical College Hospital
基金
中央高校基本科研业务费专项资金资助(lzujbky-2021-ey13)。
关键词
罕见病
临床实践指南
指南制订
rare diseases
clinical practice guideline
guideline development
作者简介
通信作者:陈耀龙,E⁃mail:chevidence@lzu.edu.cn。
