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。

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.