儿童罕见病诊疗同质化管理模式专家建议

儿童罕见病诊疗同质化管理模式建议专家组

doi:10.7499/j.issn.1008-8830.2304036

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中国当代儿科杂志 ›› 2023, Vol. 25 ›› Issue (7) : 663-671. DOI: 10.7499/j.issn.1008-8830.2304036

标准·方案·指南

儿童罕见病诊疗同质化管理模式专家建议

儿童罕见病诊疗同质化管理模式建议专家组

作者信息 +

Expert recommendations on homogenization management of the diagnosis and treatment of rare diseases in children

Expert Group on Homogeneous Management Model for Diagnosis and Treatment of Rare Diseases in Children

Author information +

文章历史 +

摘要

儿童罕见病具有患病率低、发病机制复杂、病种多样、难诊难治等特点。随着医疗事业的发展，罕见病诊治技术取得了长足进步，但罕见病诊疗同质化管理体系的建立及推广因各层级医疗资源不对称仍存在诸多不足。为进一步规范儿童罕见病诊疗管理同质化，实现早期精准诊治，改善患儿生存质量，天津市儿童医院（天津大学儿童医院）罕见病诊疗中心邀请相关领域专家从信息建设、层级诊疗、人才培养、科学普及、多方参与等方面撰写了儿童罕见病诊疗同质化管理模式的建议，为儿童罕见病临床诊疗管理体制建设区域同质化提供参考。

Abstract

Rare diseases in children are characterized by low prevalence, complex pathogenesis, variety, and difficulty in the diagnosis and treatment. With the development of medical services, progress has been made in the diagnosis and treatment of rare diseases. However, due to asymmetric allocation of medical resources at different levels, there are still many shortcomings in the establishment and promotion of the homogenized management system of rare disease diagnosis and treatment. In order to further standardize the homogenized management of rare diseases in children, achieve early and accurate diagnosis and treatment, and improve the quality of life of the children, the Rare Disease Diagnosis and Treatment Center of Tianjin Children's Hospital (Tianjin University Children's Hospital) invited relevant experts in the field to develop recommendations for the management model of homogenized diagnosis and treatment of rare diseases in children from the aspects of information construction, hierarchical diagnosis and treatment, personnel training, scientific popularization, and multi-participation. The recommendations provide reference for the regional homogenization of clinical diagnosis and treatment management system for children with rare diseases.

导出引用

儿童罕见病诊疗同质化管理模式建议专家组. 儿童罕见病诊疗同质化管理模式专家建议[J]. 中国当代儿科杂志. 2023, 25(7): 663-671 https://doi.org/10.7499/j.issn.1008-8830.2304036

Expert Group on Homogeneous Management Model for Diagnosis and Treatment of Rare Diseases in Children. Expert recommendations on homogenization management of the diagnosis and treatment of rare diseases in children[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(7): 663-671 https://doi.org/10.7499/j.issn.1008-8830.2304036

参考文献

1 李定国, 王琳, 许小幸. 从临床流行病学角度思考中国罕见病定义修订[J]. 临床儿科杂志, 2021, 39(8): 561-564. DOI: 10.3969/j.issn.1000-3606.2021.08.001.
2 张抒扬, 赵玉沛, 黄尚志, 等. 罕见病学[M]. 北京: 人民卫生出版社, 2020: 2-6.
3 Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children[J]. Nat Rev Genet, 2018, 19(5): 253-268. PMID: 29398702. DOI: 10.1038/nrg.2017.116.
4 The Ryan Foundation. Facts about rare diseases[EB/OL]. (2017-09-05)[2022-01-06]. https://ryanfoundation.org/home.
5 Blin O, Lefebvre MN, Rascol O, et al. Orphan drug clinical development[J]. Therapie, 2020, 75(2): 141-147. PMID: 32247678. DOI: 10.1016/j.therap.2020.02.004.
6 郝婵娟, 倪鑫. 儿童罕见病诊治现状及展望[J]. 罕见病研究, 2022, 1(3): 229-232. DOI: 10.12376/j.issn.2097-0501.2022.03.001.
7 张抒扬, 董咚, 李林康, 等. 2020中国罕见病综合社会调研[M]. 北京: 人民卫生出版社, 2020: 14-20.
8 何山, 高仕奇, 何欣悦, 等. 中国罕见病领域新进展(2020—2021)[J]. 协和医学杂志, 2022, 13(1): 39-45. DOI: 10.12290/xhyxzz.2021-0248.
9 中华人民共和国国家卫生健康委员会医政司. 国家卫生健康委办公厅关于建立全国罕见病诊疗协作网的通知: 国卫办医函［2019］157号[EB/OL]. (2019-02-15)[2022-09-30]. http://www.nhc.gov.cn/yzygj/s7659/201902/3a8228589bf94e6d9356008763387cc4.shtml.
10 Dong D, Chung RY, Chan RHW, et al. Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China[J]. Orphanet J Rare Dis, 2020, 15(1): 307. PMID: 33115515. PMCID: PMC7594300. DOI: 10.1186/s13023-020-01587-2.
11 刘薇, 李定国, 张碧丽, 等. 儿童罕见病诊疗与管理[M]. 北京: 人民卫生出版社, 2021: 1-5.
12 曾雁冰, 陈帆, 吴杰龙, 等. 慢性病分级诊疗“三师共管”知信行影响因素分析[J]. 中华医院管理杂志, 2017, 33(6): 408-413. DOI: 10.3760/cma.j.issn.1000-6672.2017.06.003.
13 郭健, 吕浩涵, 李杰, 等. 中国国家罕见病注册系统架构和数据质量控制及管理流程[J]. 中国数字医学, 2021, 16(1): 17-22. DOI: 10.3969/j.issn.1673-7571.2021.01.004.
14 中华人民共和国国家卫生健康委员会医政司. 国家卫生健康委办公厅关于印发罕见病诊疗指南（2019年版）的通知: 国卫办医函［2019］198号[EB/OL]. (2019-02-27)[2022-09-30]. http://www.nhc.gov.cn/yzygj/s7659/201902/61d06b4916c348e0810ce1fceb844333.shtml.
15 新丝路资本. 2023中国罕见病行业趋势观察报告[EB/OL]. (2023-03-16)[2023-04-10]. https://mp.weixin.qq.com/s/qcFRk3jG3StDGPPpiWtUKw.
16 苏州市疾病预防控制中心, 上海市疾病预防控制中心, 杭州市疾病预防控制中心, 等. 特殊健康状态儿童预防接种专家共识之二十一——遗传代谢病与预防接种[J]. 中国实用儿科杂志, 2019, 34(5): 338-339. DOI: 10.19538/j.ek2019050604.
17 国家癌症中心, 中国药师协会肿瘤专科药师分会. 抗体类抗肿瘤药物药学服务指南[J]. 中华肿瘤杂志, 2022, 44(10): 1017-1046. PMID: 36319449. DOI: 10.3760/cma.j.cn112152-20220902-00593.
18 中华人民共和国中央人民政府. 中共中央、国务院印发《“健康中国2030”规划纲要》[EB/OL]. (2016-10-25)[2022-08-08]. http://www.gov.cn/zhengce/2016-10/25/content_5124174.htm.
19 中华医学会骨质疏松和骨矿盐疾病分会. 成骨不全症临床诊疗指南[J]. 中华骨质疏松和骨矿盐疾病杂志, 2019, 12(1): 11-23. DOI: 10.3969/j.issn.1674-2591.2019.01.002.
20 吴莹, 熊晖. 脊髓性肌萎缩症的早期识别与诊断治疗[J]. 中华儿科杂志, 2023, 61(3): 286-288. PMID: 36849362. DOI: 10.3760/cma.j.cn112140-20221116-00976.
21 中华预防医学会出生缺陷预防与控制专业委员会新生儿遗传代谢病筛查学组, 中华医学会儿科分会出生缺陷预防与控制专业委员会, 中国医师协会医学遗传医师分会临床生化遗传专业委员会, 等. 原发性肉碱缺乏症筛查与诊治共识[J]. 中华医学杂志, 2019, 99(2): 88-92. DOI: 10.3760/cma.j.issn.0376-2491.2019.02.003.
22 王靖, 邱文娟. 2023年罕见病类特殊医学用途配方食品可及性报告[R]. 北京, 2023.
23 廖培元, 黄启坤, 李颖. 126例轻度胃肠炎伴婴幼儿良性惊厥患儿的惊厥发作特征、治疗及预后分析[J]. 山东医药, 2019, 59(12): 59-62. DOI: 10.3969/j.issn.1002-266X.2019.12.016.
24 裴晶晶, 王冉, 郭冰冰, 等. 41例苯丙酮尿症患儿饮食治疗效果评估[J]. 中国儿童保健杂志, 2020, 28(7): 780-783. DOI: 10.11852/zgetbjzz2019-0553.
25 丁洁. 罕见病儿科医师培训[J]. 中国实用儿科杂志, 2022, 37(4): 253-256. DOI: 10.19538/j.ek2022040603.
26 尚越, 常精华, 宋海. 唐山市临床医生罕见病诊疗行为影响因素分析[J]. 医学与社会, 2021, 34(8): 57-61. DOI: 10.13723/j.yxysh.2021.08.012.
27 Petrovski S, Aggarwal V, Giordano JL, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study[J]. Lancet, 2019, 393(10173): 758-767. PMID: 30712878. DOI: 10.1016/S0140-6736(18)32042-7.
28 黄金月, 张碧丽, 刘薇. 遗传相关儿童罕见病临床诊断技术现状、进展与思考[J]. 中国当代儿科杂志, 2023, 25(3): 308-314. PMID: 36946168. PMCID: PMC10032066. DOI: 10.7499/j.issn.1008-8830.2211010.
29 柴红燕, 王伟, 商璇, 等. 美国基于实践的遗传咨询师专业培训、认证和评估系统[J]. 中华医学遗传学杂志, 2019, 36(1): 37-43. DOI: 10.3760/cma.j.issn.1003-9406.2019.01.007.
30 K?hler S, Gargano M, Matentzoglu N, et al. The human phenotype ontology in 2021[J]. Nucleic Acids Res, 2021, 49(D1): D1207-D1217. PMID: 33264411. PMCID: PMC7778952. DOI: 10.1093/nar/gkaa1043.
31 Graham E, Lee J, Price M, et al. Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review[J]. J Inherit Metab Dis, 2018, 41(3): 435-445. PMID: 29721916. PMCID: PMC5959954. DOI: 10.1007/s10545-018-0139-6.
32 刘薇, 张碧丽, 黄金月. 儿童罕见病管理现状、进展与前景[J]. 罕见病研究, 2022, 1(1): 20-27. DOI: 10.12376/j.issn.2097-0501.2022.01.004.
33 余自强, 吴德沛. 推动血友病规范化治疗需落实五方面工作[J]. 中华医学信息导报, 2021, 36(8): 22. DOI: 10.3760/cma.j.issn.1000-8039.2021.08.132.
34 北京医学会罕见病分会, 北京医学会医学遗传学分会, 北京医学会神经病学分会神经肌肉病学组, 等. 脊髓性肌萎缩症多学科管理专家共识[J]. 中华医学杂志, 2019, 99(19): 1460-1467. DOI: 10.3760/cma.j.issn.0376-2491.2019.19.006.
35 中华医学会血液学分会血栓与止血学组, 中国血友病协作组. 血友病诊断与治疗中国专家共识（2017年版）[J]. 中华血液学杂志, 2017, 38(5): 364-370. PMID: 28565732. PMCID: PMC7354196. DOI: 10.3760/cma.j.issn.0253-2727.2017.05.002.
36 中华医学会儿科学分会康复学组, 中国康复医学会物理治疗专委会. 脊髓性肌萎缩症康复管理专家共识[J]. 中华儿科杂志, 2022, 60(9): 883-887. PMID: 36038296. DOI: 10.3760/cma.j.cn112140-20220315-00201.