浙江省2007-2017年罕见病住院病例特征分析

Characteristics of rare diseases in Zhejiang province, 2007-2017

目的:分析2007-2017年浙江省24388例罕见病住院病例特征,为制定罕见病防控策略提供依据。方法:收集2007-2017年浙江省10家三级甲等(三甲)医院罕见病住院病例资料和各年度住院数,进行描述性统计分析。结果:罕见病病例共24388例,占住院总例数的2.69‰(24388/9054201),病例数居前3位的疾病类型依次为"血液和造血器官疾病以及某些涉及免疫机能的异常"(占32.81%,8001/24388)、"先天性畸形、变形和染色体异常"(占24.87%,6065/24388)和"神经系统疾病"(占19.01%,4635/24388);2007-2017年罕见病病例数呈逐年增长趋势,年均增幅19.69%,而罕见病例数占同期住院总例数比例仅在2016-2017年明显上升,各类型罕见病时间分布呈不同特征;罕见病的病例数男女性别比为1.35∶1(13990/10398),男女性别比最高的3类疾病依次为"消化系统疾病"(4.45∶1,1180/265)"损伤、中毒和外因的某些其他后果"(3.51∶1,281/80)和"神经系统疾病"(2.26∶1,3213/1422);各年龄段罕见病类型、各类型罕见病年龄分布均呈不同特征;病例数居前10位的疾病占全部罕见病例数的53.55%(13060/24388),其中前3位疾病分别为成人粒细胞缺乏症(14.41%,3515/24388)、皮质基底核退化症(7.60%,1854/24388)和亨诺克-舍恩莱因紫癜(6.01%,1466/24388)。结论:本研究分析的浙江省2007-2017年24388例罕见病住院病例的特征资料,是推动我国罕见病的研究、监测或登记数据库构建、制定防控策略的参考依据。

Objective To understand the characteristics of 24388 inpatients with rare diseases in Zhejiang province during 2007-2017 and provide evidence for rare disease prevention and control.Methods Inpatient data of rare diseases and the number of hospitalization in each year were collected in 10 hospitals of classⅢ(A)in Zhejiang province from 2007 to 2017,and descriptive statistical analysis was used.Results A total of 24388 cases of rare diseases were found,accounting for 2.69‰(24388/9054201)of total hospitalized cases.The top 3 types of rare diseases were"diseases of blood and blood-forming organs and certain disorders involving immune mechanism"(32.81%,8001/24388),"congenital malformations,deformations and chromosomal abnormalities"(24.87%,6065/24388)and"diseases of the nervous system"(19.01%,4635/24388).The number of rare disease cases increased year by year from 2007 to 2017 with an average annual growth of 19.69%,however,the proportion of rare disease cases in the annual number of hospitalized cases only showed upward trend during 2016-2017,the time distribution of different types of rare diseases had different characteristics.The male to female ratio of rare diseases cases was 1.35∶1(13990/10398),"diseases of the digestive system"(4.45∶1,1180/265),"consequences of injury,poisoning and other external causes"(3.51∶1,281/80)and"diseases of the nervous system"(2.26∶1,3213/1422)had the highest male to female ratio.The distributions of rare disease types and diseases of different types in different age groups varied.The top 10 rare diseases accounted for 53.55%(13060/24388)of the total cases,and the top 3 diseases were adult idiopathic neutropenia(14.41%,3515/24388),corticobasal degeneration(7.60%,1854/24388)and henock-schoenlein purpura(6.01%,1466/24388).Conclusion The analysis on the characteristics of 24388 rare disease cases in Zhejiang during 2007-2017 provided reference evidence for the promotion of rare disease research,monitoring,building registration database,and development of the prevention and control strategy for rare diseases in China.