【摘要】 目的：系统梳理我国两批罕见病目录的疾病特征、药物治疗情况及医保报销情况，为完善罕见病药品价值评估体系提供参考。方法：基于两批罕见病目录，梳理罕见病分类、主要发病年龄阶段、疾病严重程度以及药品疗效、治疗费用、医保报销情况。结果：两批目录内多数罕见病属于内分泌、营养和代谢疾病，在婴幼儿期高发，62种疾病有明确致死性，67种疾病可导致不同类型的残疾；约一半的疾病可以得到控制性治疗，仅少数疾病能根治；医保协议期内药品年均治疗费用约为11.92万元，绝大部分药品年均治疗费用在30万元以内，基本医保年均报销费用为7.51万元，患者年均自付费用为4.41万元。结论：罕见病具有发病年龄较小、病情严重等特点，基本医保虽然显著减轻了患者用药负担，但仍存在缺口，需健全多层次医疗保障体系，构建更科学的罕见病药品价值评估体系。更多还原

【Abstract】 Objective To systematically review the disease characteristics, drug treatment status, and medical insurance reimbursement status of the two batches of rare disease catalogues in China. Methods Based on the two batches of rare disease catalogues, information was collected and analyzed on rare disease classification, major age of onset, disease severity, as well as drug efficacy, treatment costs, and medical insurance reimbursement status. Results The majority of rare diseases in the two catalogues were classified as endocrine, nutritional,and metabolic disorders, with a high incidence during infancy. Among the listed diseases, 62 were identified as fatal, and 67 could lead to various types of disability. Approximately half of the diseases could be managed with controllable treatment, while only a few could be cured.For drugs covered under the national medical insurance agreement period, the average annual treatment cost was approximately 119 200 yuan,with the vast majority having annual treatment cost below 300 000 yuan. The average annual reimbursement amount from basic medical insurance was 75 100 yuan, and the average annual out-of-pocket cost for patients was 44 100 yuan. Conclusion Rare diseases are characterized by relatively early age of onset and high severity, although basic medical insurance has significantly reduced the medication burden for patients, coverage gaps remain. It is necessary to establish a more diversified multi-tiered medical security system and construct a more scientific value assessment system for rare disease drugs.更多还原