临床儿科杂志 ›› 2025, Vol. 43 ›› Issue (10): 723-726.doi: 10.12372/jcp.2025.25e0375

• 专家笔谈 •    下一篇

从“被动延续”到“主动衔接”:儿童青少年罕见病延续治疗的临床实践与思考

常国营1,2, 杨帆2, 殷蕾3, 袁加俊4, 王秀敏1,2()   

  1. 1.内分泌遗传代谢科 上海交通大学医学院附属上海儿童医学中心(上海 200127)
    2.临床研究病区 上海交通大学医学院附属上海儿童医学中心(上海 200127)
    3.肾内科 上海交通大学医学院附属上海儿童医学中心(上海 200127)
    4.医务部 上海交通大学医学院附属上海儿童医学中心(上海 200127)
  • 收稿日期:2025-04-11 录用日期:2025-08-20 出版日期:2025-10-15 发布日期:2025-09-29
  • 通讯作者: 王秀敏 E-mail:wangxiumin1019@126.com.cn
  • 基金资助:
    上海市卫生健康委员会2024年医疗服务与保障能力提升(国家临床重点专科建设)项目(10000015Z155080000004);科技部国家重点研发计划生育健康及妇女儿童健康保障项目(2023YFC2706305)

From "Passive Continuation" to "Active Transition": Clinical practice and reflection on continuation therapy for pediatric and adolescent rare diseases

CHANG Guoying1,2, YANG Fan2, YIN Lei3, YUAN Jiajun4, WANG Xiumin1,2()   

  1. 1. Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
    2. Department of Clinical Research Ward, Shanghai Children’s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
    3. Department of Nephrology, Shanghai Children’s Medical Center, Shanghai Children’s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
    4. Department of Medical Administration, Shanghai Children’s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
  • Received:2025-04-11 Accepted:2025-08-20 Published:2025-10-15 Online:2025-09-29
  • Contact: WANG Xiumin E-mail:wangxiumin1019@126.com.cn

摘要:

罕见病儿童青少年患者的延续性治疗是全球公共卫生的重要挑战。我国罕见病管理面临医疗体系割裂与政策衔接不足的困境,儿童向成人过渡期存在显著诊疗断层,导致患者无法持续接受有效治疗,生存质量降低;而患者失访率攀升也不利于我国罕见病诊疗研究的发展。罕见病诊疗从儿童向成人的过渡,既面临科学层面的问题,也面临机制和体系的挑战。文章基于国内专科医院创新实践及国际经验,系统剖析罕见病延续性治疗的核心障碍与转型路径。本文提出通过政策、技术与临床实践的多维协同,构建覆盖“筛查-干预-康复-随访”的终身管理体系,推动我国罕见病诊疗从“被动延续”向“主动衔接”的战略转型。

关键词: 罕见病, 儿童青少年, 过渡期, 延续性治疗

Abstract:

Continuity of care for children and adolescent patients with rare diseases poses a major global public health challenge. In China, rare disease management is plagued by a fragmented healthcare system and poorly coordinated policies, resulting in a significant gap in care during the transition from pediatric to adult services. This disruption often leaves patients without consistent access to effective treatment, reducing their quality of life. Moreover, rising loss-to-follow-up rates further threaten patient survival and well-being, undermining the development of rare disease research and clinical practice in the country. Addressing the transition from pediatric to adult care for rare diseases involves not only scientific hurdles but also systemic and structural barriers. Building on innovative approaches from specialized domestic hospitals and international best practices, this paper provides a systematic analysis of the key obstacles and transformational strategies needed to enable continuous care. We propose a multidimensional approach that integrates policy, technology, and clinical practice to establish a lifelong management system spanning "Screening - Intervention - Rehabilitation - Follow-up." This model aims to shift China’s rare disease management from a "passive continuation" approach to "Active Transition" strategy.

Key words: rare disease, children and adolescents, transition, continuity of care

中图分类号: 

  • R72