【摘要】 目的：分析2011—2020年天津市儿童医院罕见病住院病例特征。方法：根据国家颁布的第一批罕见病目录，以ICD-10编码为基准，选取该院近10年首次收治住院的1 545例罕见病病例为调查对象，分析病例的基本情况、疾病系统分布以及不同性别、年龄间病种类型及顺位变化。结果：共收集罕见病病例1 545例，其中，男性905例，占58.58%，女性640例，占41.42%，按年龄分为婴儿期、幼儿期、学龄前期、学龄期和青少年期5组。涉及21个疾病系统分类中的11个分类，内分泌、营养和代谢疾病为主要罕见病类型，占32.75%，其次为循环系统疾病，第3为神经系统疾病。各系统罕见病存在性别差异（χ~2=55.586,P<0.01）。病种构成上共覆盖79种罕见病，病例数居于前十位的占病例总数的59.09%。性别分布上男性病例多于女性病例。男性前5位病种与总体排序一致，女性略有差异。年龄分布上，婴幼儿期是儿童罕见病的主要发生人群，占总数的55.47%。各罕见病在年龄分布上差异有统计学意义（P<0.05）。结论：不同类型罕见病患者男女比例差别较大，不同年龄段儿童罕见病类型存在差异。更多还原

【Abstract】 Objective:To analyze the characteristics of inpatients with rare diseases in Tianjin Children′s Hospital from 2011 to 2020.Methods:According to the first batch of rare diseases catalogue issued by the state,a total of 1 545 cases of patients with rare diseases admitted to the hospital for the first time in the past 10 years were selected as the study objects as per the International Classification of Diseases(ICD)-10 code. The basic information,disease system distribution,disease types and sequence changes of these cases of patients of different genders and ages were analyzed. Results:A total of 1 545 rare disease cases were collected,of which 905 were male patients,accounting for 58.58%,and 640 were female patients,accounting for 41.42%. They were divided into 5 groups according to age:namely,the infant period,early child period,preschool period,school period and adolescent period groups. In terms of disease types,11 types of the 21categories of disease systems were involved,of which the endocrine,nutritional and metabolic diseases were the main rare diseases,accounting for 32.75%,followed by the circulatory system diseases and nervous system diseases. There was a gender difference in the rare diseases of these systems （χ~2=55.586,P<0.01）. In terms of disease composition,a total of 79 types of rare diseases were involved and the top 10 types with the most number of cases accounted for 59.09% of the total number of cases. In terms of gender distribution,the number of male cases involved was greater than that of the female cases. The top five types of diseases in the male cases were consistent with those in the total cases,but there was a slight difference in the case of the female cases. In terms of age distribution,the infantile group involved the most rare diseases of childhood,with the number of cases accounting for 55.47% of the total cases. There were significant differences in the age distribution of all rare diseases(P <0.05). Conclusion:There is a significant difference in the proportions of different types of rare diseases between the male patients and the female patients,and there are differences in the types of rare diseases of childhood in the patients of different ages.更多还原