基于中国1500万余例次住院病例的121种罕见病现况分析

Study on the current situation of China＇s First List of Rare Diseases based on 15 million hospitalizations

目的运用病案首页数据库，探讨分析我国第一批罕见病目录的121种疾病在我国三级甲等医院住院病例的基础数据，了解我国罕见病现状。方法基于北京医学会罕见病分会前期罕见病调研的数据，对第一批罕见病目录中罕见病在全国96家三级甲等医院2014-2015年罕见病住院患者现况进行对比及描述性研究分析。结果经与调研清单比对，第一批罕见病目录中有19种罕见病不在调研清单中，其余102种罕见病总例次为54468例次，占同期住院总例次的0．35％。前10位最常见罕见病总例次为37977例次，占同期住院总例次的0．25％。前10位最少见罕见病总例次为24例次，占同期住院总例次的0．00016％。住院人群诊治罕见病种类最多的前5个省／直辖市分别为北京、湖南、上海、山东、广东，被收治的住院罕见病例次最多的前5个省／直辖市为北京、上海、广东、山东、湖北。年龄分布显示，25-64岁年龄组占45．8％，0～14岁年龄组占28．6％。罕见病前10位重复住院率为28．42％一64．88％。结论本研究初步探索了第一批罕见病目录中121种罕见病在全国三级甲等医院住院人群中的例次、种类、省／直辖市分布、年龄分布及重复住院率等，为进一步建立全国范围内罕见病注册数据库及制定罕见病相关政策提供基础数据支撑。

Objective 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. Methods 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. Results 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 O. 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, HuMan, 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%. Conclusions 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.