平台聚能与专科集群驱动儿童罕见病全生命周期管理

Platform-Integrated Synergy and Subspecialty Cluster-Driven Lifelong Management of Pediatric Rare Diseases

  • 摘要: 随着罕见病防治政策体系的持续完善,中国罕见病诊疗能力不断提升,然而在临床实践中,诊断延迟、治疗衔接不足以及长期管理连续性欠佳等问题仍较为普遍,特别是儿童罕见病,多发生于生长发育阶段,其临床表型会随年龄动态变化,如诊断延误可能导致错过关键干预窗口期。华中科技大学同济医学院附属同济医院(以下简称“同济医院”)作为湖北省罕见病医学中心和罕见病质量控制中心的牵头单位,依托综合医院多学科优势,构建并实践了以“平台聚能、专科集群”为核心的罕见病学科群建设模式。该模式围绕儿童罕见病全生命周期管理需求,构建了涵盖技术与数据支撑、平台治理、专科集群运行及区域与政策联动的体系化运行框架。本文通过总结同济医院罕见病学科群建设的组织路径与实践成效,旨在为综合医院推进罕见病诊疗体系建设提供参考。

     

    Abstract: With the continuous refinement of China's rare disease prevention and treatment policies, the diagnosis and treatment capacity for rare diseases in China has been steadily improved; however, delayed diagnosis, inadequate transition of care, and poor continuity of long-term management remain common, particularly in pediatric rare diseases. Pediatric rare diseases often arise during critical developmental stages and exhibit age-dependent phenotypic evolution, such that diagnostic delays may lead to the missing of critical intervention windows. As the leading institution of the Hubei Provincial Rare Disease Medical Center and the Rare Disease Quality Control Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology (hereinafter referred to as "Tongji Hospital") has established and implemented a rare disease discipline cluster model centered on platform convergence and specialty clustering. This model centers on the whole-life-cycle management needs of pediatric rare diseases, and constructs a systematic operational framework covering technical and data support, platform governance, specialized cluster operation, as well as regional and policy coordination. By summarizing the organizational pathway and practical effects of the rare disease discipline cluster construction at Tongji Hospital, this paper aims to provide a reference for general hospitals in promoting the development of rare disease diagnosis and treatment systems.

     

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