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Protocol for the Development of the Guidelines for the Genetic Diagnosis of Autoinflammatory Diseases in China
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摘要: 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。Abstract: 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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Key words:
- autoinflammatory diseases /
- gene /
- diagnosis /
- guideline /
- protocol
作者贡献：王薇负责起草计划书；张越伦负责方法学指导及论文审阅；高思豪负责摘要翻译与绘图；宋红梅负责项目整体运营及论文审核。利益冲突：所有作者均声明不存在利益冲突 -
[1] Ben-Chetrit E, Gattorno M, Gul A, et al. Consensus Proposal for Taxonomy and Definition of the Autoinflamma-tory Diseases (AIDs): A Delphi Study[J]. Ann Rheum Dis, 2018, 77: 1558-1565. doi: 10.1136/annrheumdis-2017-212515 [2] Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee[J]. J Clin Immunol, 2022. doi: 10.1007/s10875-022-01289-3. [3] Graham R, Mancher M, Miller WD, et al. Committee on Standards for Developing Trustworthy Clinical Practice Guidelines. Clinical Practice Guidelines We Can Trust[M]. Washington DC: National Academies Press, 2011. [4] Sinclair D, Isba R, Kredo T, et al. World Health Organization Guideline Development: An Evaluation[J]. PLoS One, 2013, 8: e63715. doi: 10.1371/journal.pone.0063715 [5] Brouwers MC, Kerkvliet K, Spithoff K, et al. The AGREE Reporting Checklist: A Tool to Improve Reporting of Clinical Practice Guidelines[J]. BMJ, 2016, 352: i1152. [6] Chen Y, Yang K, Marušic A, et al. A Reporting Tool for Practice Guidelines in Health Care: The RIGHT Statement[J]. Ann Intern Med, 2017, 166: 128-132. doi: 10.7326/M16-1565 [7] Shea BJ, Reeves BC, Wells G, et al. AMSTAR 2: A Critical Appraisal Tool for Systematic Reviews That Include Randomised or Non-Randomised Studies of Healthcare Interventions, or Both[J]. BMJ, 2017, 358: j4008. [8] Higgins JPT, Altman DG, Gøtzsche PC, et al. The Cochrane Collaboration's Tool for Assessing Risk of Bias in Randomised Trials[J]. BMJ, 2011, 343: d5928. doi: 10.1136/bmj.d5928 [9] Sterne JA, Hernán MA, Reeves BC, et al. ROBINS-I: A Tool for Assessing Risk of Bias in Non-Randomised Studies of Interventions[J]. BMJ, 2016, 355: i4919. [10] Whiting PF, Rutjes AWS, Westwood ME, et al. QUADAS-2: A Revised Tool for the Quality Assessment of Diagnostic Accuracy Studies[J]. Ann Intern Med, 2011, 155: 529-536. doi: 10.7326/0003-4819-155-8-201110180-00009 [11] Stang A. Critical Evaluation of the Newcastle-Ottawa Scale for the Assessment of the Quality of Nonrandomized Studies in Meta-Analyses[J]. Eur J Epidemiol, 2010, 25: 603-605. doi: 10.1007/s10654-010-9491-z [12] Rostom A, Dubé C, Cranney A, et al. Appendix D. Quality Assessment Forms[M]. Rockville (MD): Agency for Healthcare Research and Quality (US), 2004. [13] Institute of Health Economics (IHE). Quality Appraisal of Case Series Studies Checklist[EB/OL] (2016-03-02)[2023-02-13]. http://www.ihe.ca/research-programs/rmd/cssqac/cssqac-about .[14] Guyatt GH, Oxman AD, Vist GE, et al. GRADE: An Emerging Consensus on Rating Quality of Evidence and Strength of Recommendations[J]. BMJ, 2008, 336: 924-926. doi: 10.1136/bmj.39489.470347.AD [15] ter Haar NM, Oswald M, Jeyaratnam J, et al. Recommendations for the Management of Autoinflammatory Diseases[J]. Ann Rheum Dis, 2015, 74: 1636-1644. doi: 10.1136/annrheumdis-2015-207546 [16] Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, et al. Diagnostic Criteria for Cryopyrin-Associated Periodic Syndrome (CAPS)[J]. Ann Rheum Dis, 2017, 76: 942-947. doi: 10.1136/annrheumdis-2016-209686 [17] Hansmann S, Lainka E, Horneff G, et al. Consensus Protocols for the Diagnosis and Management of the Hereditary Autoinflammatory Syndromes CAPS, TRAPS and MKD/HIDS: A German PRO-KIND Initiative[J]. Pediatr Rheumatol Online J, 2020, 18: 17. doi: 10.1186/s12969-020-0409-3 [18] Romano M, Arici ZS, Piskin D, et al. The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist[J]. Ann Rheum Dis, 2022, 81: 907-921. doi: 10.1136/annrheumdis-2021-221801 [19] Cetin Gedik K, Lamot L, Romano M, et al. The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI and AGS[J]. Ann Rheum Dis, 2022, 81: 601-613. doi: 10.1136/annrheumdis-2021-221814 [20] Shinar Y, Ceccherini I, Rowczenio D, et al. ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the next-Generation Sequencing Era[J]. Clin Chem, 2020, 66: 525-536. doi: 10.1093/clinchem/hvaa024 -
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