Shi X M, Liu H, Wang L, Wang Z X, Dong C Y, Wang Y F, Yao C, Zhan S Y, Ding J, Li Y
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Zhonghua Yi Xue Za Zhi. 2018 Oct 30;98(40):3274-3278. doi: 10.3760/cma.j.issn.0376-2491.2018.40.012.
To investigate and analyze the distribution of 121 diseases of China's First List of Rare Diseases based on hospitalized patients of tertiary hospitals and to explore the current situation of rare diseases in China. Based on previous data of study from Beijing Society of Rare Diseases, a comparison between China's First List of Rare Diseases and the survey list from the pre-study was performed. Descriptive analysis was carried out on the current situation of rare diseases on hospitalizations in 96 tertiary hospitals from year of 2014 to 2015. Nineteen out of 121 diseases on China's First List of Rare Diseases were not included in the rare diseases survey list of Beijing Society of Rare Diseases. The total number of other 102 rare disease cases was 54 468, accounting for 0.35% of the inpatients during the same period. The top ten most and least cases with rare disease were demonstrated in this study. The number of the top ten most cases was 37 977, accounting for 0.25% of the inpatients during the same period. The number of the top ten least cases was 24, accounting for 0.000 16% of the inpatients during the same period. The top most five types of rare diseases counted on the provinces and municipalities were Beijing, Hunan, Shanghai, Shandong and Guangdong. The top five most cases of rare diseases counted on the provinces and municipalities were Beijing, Shanghai, Guangdong, Shandong and Hubei. The age distribution showed that the cases with rare diseases aged 25-64 years accounted for 45.8%, and the cases in children aged 0-14 accounted for 28.6%. The top ten readmission rate ranged from 28.42% to 64.88%. This study preliminarily investigates the number, type, province and municipality distribution, age distribution, and readmission rate of 121 rare diseases from China's First List of Rare Diseases in the hospitalized patients of tertiary hospitals, which provides important data for registration study, medical and drug policy making and other relevant work on rare diseases in China in the future.
基于三级医院住院患者调查分析《中国第一批罕见病目录》中121种疾病的分布情况，以探索我国罕见病的现状。基于北京罕见病学会之前的研究数据，对《中国第一批罕见病目录》和预研究的调查清单进行了比较。对2014年至2015年96家三级医院住院患者的罕见病现状进行了描述性分析。《中国第一批罕见病目录》中的121种疾病中有19种未被纳入北京罕见病学会的罕见病调查清单。其他102种罕见病病例总数为54468例，占同期住院患者的0.35%。本研究展示了罕见病病例数最多和最少的前十种疾病。病例数最多的前十种疾病有37977例，占同期住院患者的0.25%。病例数最少的前十种疾病有24例，占同期住院患者的0.00016%。按省市统计，罕见病病例数最多的前五个地区是北京、湖南、上海、山东和广东。按省市统计，罕见病病例数最多的前五个地区是北京、上海、广东、山东和湖北。年龄分布显示，25至64岁的罕见病患者占45.8%，0至14岁儿童患者占28.6%。前十种疾病的再入院率在28.42%至64.88%之间。本研究初步调查了《中国第一批罕见病目录》中121种罕见病在三级医院住院患者中的数量、类型、省市分布、年龄分布和再入院率，为我国未来罕见病登记研究、医疗和药物政策制定等相关工作提供了重要数据。
