新京报讯（记者王卡拉）在近日召开的2025年补体日大会上，超10个国家的近300位中外顶级专家汇 聚，聚焦血液、肾科、神经三大领域，围绕阵发性睡眠性血红蛋白尿症（PNH）、非典型溶血性尿毒症 综合征（aHUS）、全身型重症肌无力（gMG）、视神经脊髓炎谱系病（NMOSD）四大罕见病，从基 础研究、临床实践到多学科协作展开深度交流。 补体系统是人体先天免疫的核心组成部分，如同维系免疫平衡的"双刃剑"。它在免疫监视与组织稳态中 发挥关键作用，能协助机体清除病原体与受损细胞，守护健康；但当补体系统出现缺陷、功能障碍或过 度活化时，又会成为多种炎性或自身免疫性疾病的驱动因素，诱发PNH、aHUS、gMG、NMOSD等罕 见病。 这类与补体系统相关的罕见病，危害具有显著共性：起病隐匿且临床表现复杂，基层医疗机构认知不 足，导致漏诊、误诊率较高，许多患者需经历漫长的诊断历程；病情进展迅猛且凶险，可累及血液、肾 脏、神经等多个器官系统，严重影响患者生命质量与生存期，给患者家庭带来沉重的身心压力与经济负 担。 PNH的血管内溶血、aHUS的肾脏损伤、gMG导致的肌肉无力、NMOSD高复发高致残——这些曾让临 床束手无策的难题 ...

被称为"瓷娃娃"的成骨不全症患者的教育机会显著改善，但困境仍待破局。第九届瓷娃娃病友大会近日在广州召开，大会上正式发布了《2025中国成骨不全 症患者生存状况调研报告》，旨在探讨成骨不全症患者群体的全生命周期支持与社会融入度提升。 中国罕见病联盟代表副会长赵琳表示，近年来国家高度重视罕见病患者群体，多次强调多措并举，提升罕见病诊疗防治水平。但罕见病事业的发展需要全社 会的共同参与和努力，其中"患者组织在推动罕见病防治工作中发挥着不可或缺的作用"。 在开幕式上，《2025中国成骨不全症患者生存状况调研报告》重磅发布。这份基于来自全国各地瓷娃娃病友的196份有效问卷，指出了瓷娃娃目前的生存状 况及面临的挑战。 香港中文大学医学院赛马会公共卫生及基层学院助理教授董咚介绍了报告现阶段调研结果的主要发现，其中瓷娃娃患儿的教育机会显著改善。与2017年相 比，适龄患儿的学籍拥有率从93%升至99%，校园无障碍厕所覆盖率从34%提升至62%，患儿独立上学比例从6%提到至34%，被迫休学/退学率从48%降至 41%。随着环境障碍的明显改善，越来越多的瓷娃娃患者不仅完成了义务教育，还顺利升读更高等学府。 瓷娃娃，被常用来形容成 ...

Core Viewpoint - The event "2 in 20,000 Encounters - The First National Public Welfare Science Popularization Art Exhibition on Tenosynovial Giant Cell Tumor (TGCT)" aims to raise awareness about TGCT, a rare disease affecting approximately 60,000 new cases annually in China, highlighting its impact on patients' daily lives and mobility [1][2]. Group 1: Disease Overview - TGCT is a non-malignant, locally aggressive tumor primarily affecting individuals aged 20-50, leading to symptoms such as joint swelling, pain, stiffness, and limited mobility [1][2]. - The disease is often misdiagnosed due to its non-specific symptoms, which can resemble other conditions like ganglion cysts and osteoarthritis, resulting in delayed treatment for many patients [2]. Group 2: Treatment and Clinical Needs - Surgical intervention remains the primary treatment for TGCT, with an overall recurrence rate of approximately 46.8% and a median recurrence time of about 12.9 months [2]. - There is a significant unmet clinical need for safe, effective systemic treatments, especially for patients with diffuse TGCT, who face challenges of recurrence and complications [2]. Group 3: Awareness and Community Involvement - The event aims to mobilize social forces and increase public participation in rare disease awareness, emphasizing the need for collaboration among government, medical institutions, enterprises, charitable organizations, and society to build a sustainable ecosystem for rare disease prevention and treatment in China [3].

Core Viewpoint - The event "1 in 20,000 Encounter - Public Welfare Science Popularization Art Exhibition on Rare Disease TGCT" aims to raise awareness about tenosynovial giant cell tumor (TGCT), a rare disease affecting joints, through art and public engagement [1][2][3] Group 1: Disease Awareness and Impact - TGCT has an incidence rate of 1 in 20,000 and is included in the national rare disease directory, with approximately 60,000 new patients diagnosed annually in China [1][3] - Patients often face misdiagnosis and delayed diagnosis, taking an average of 1 to 2 years from first visit to confirmation of the disease [2] - The exhibition features over 100 artworks that express the real-life experiences of TGCT patients, highlighting their daily struggles with symptoms like joint swelling and pain [1][2] Group 2: Collaborative Efforts in Rare Disease Management - The event is organized by multiple stakeholders, including the China Rare Disease Alliance and the Beijing Rare Disease Diagnosis and Treatment and Guarantee Society, emphasizing the need for collaboration in rare disease management [1][4] - Experts call for increased public awareness and education on rare diseases, urging healthcare professionals to engage in outreach and communication with patients [2] - The Chinese government is focusing on building a support system for rare diseases, integrating drug supply and patient management into healthcare policies [3] Group 3: Future Directions and Goals - The ultimate goal of rare disease prevention and treatment is to ensure that every "1 in 20,000" patient does not feel isolated [3] - The exhibition serves as a platform to bridge gaps in understanding and to foster dialogue about rare diseases, aiming to improve both treatment pathways and societal empathy [3][4]

Group 1 - The 2025 International Rare Disease Conference (IRDCC) was recently held in Hainan, focusing on enhancing the diagnosis and treatment capabilities for rare diseases in China [1] - The National Health Commission has established a national rare disease quality control center along with over 20 provincial and 50 municipal quality control centers to ensure standardized treatment across hospitals [1] - A global resolution on rare diseases was initiated by 21 countries, including China, at the World Health Assembly, highlighting the challenges faced by approximately 300 million people worldwide with rare diseases [1] Group 2 - The conference gathered over 1,000 experts and researchers from various fields related to rare diseases, including basic research, clinical diagnosis, policy support, and patient services [2] - The event featured a main forum, 17 sub-forums, closed academic discussions, an innovation exhibition, and public consultation activities [2] - The conference was co-hosted by the China Rare Disease Alliance and the National Rare Disease Diagnosis and Treatment Collaboration Network Office, with support from over 40 international and domestic organizations [2]