某院2015年-2019年罕见病住院病例特征分析

目的分析陕西省某三甲综合医院2015年-2019年罕见病住院病例特征，为开展罕见病研究提供依据。方法根据《第一批罕见病目录》，收集医院2015年-2019年罕见病住院病例资料，进行回顾性分析。结果2015年-2019年医院共收住院罕见病患者1 055例次，占住院患者总例数的0.15%。罕见病病例数男女性别比为1.14:1；不同年龄段病例数分布依次为中年组＞青年组＞老年组＞儿童组；涉及21个疾病系统分类中的10个分类，其中神经系统疾病患者最多；共覆盖42种罕见病，前10位病种人数占患者总数的84.55%，前3位分别为肌萎缩侧索硬化、视神经脊髓炎、重症肌无力；从费用构成来看，前10位病种诊断费及药品费占比普遍较高，少数病种耗材费占比较高。重复住院率前10位的病种中，重复住院率在25%～64%。结论该院罕见病发病年龄跨度大、疾病类型多样、住院费用较高、个体差异较大，具有一定代表性，可为推动陕西省乃至西北地区罕见病研究提供参考。

Analysis of the Characteristics of Inpatients with Rare Diseases in a Hospital from 2015 to 2019

ObjectiveTo analyze the characteristics of rare diseases inpatients in a tertiary hospital in Shaanxi from 2015 to 2019, and to provide evidence for the study of rare diseases.MethodsAccording to the Catalog of the First List of Rare Diseases, the data of inpatients with rare diseases in hospitals from 2015 to 2019 were collected for retrospective analysis.ResultsFrom 2015 to 2019, the hospital admitted a total of 1 055 rare disease patients, accounting for 0.15% of the total inpatients. The sex ratio of rare disease cases was 1.14:1. In different age groups, the rank sequence was middle age group, youth group, old age group, and children group. 10 of the 21 classifications of diseases were involved, among which the patients with neurological diseases were the most. A total of 42 rare diseases were covered, and the number of the top 10 diseases accounted for 84.55% of the total number of patients. The top 3 diseases were amyotrophic lateral sclerosis, neuromyelitis optica, and myasthenia gravis. From the perspective of cost structure, the proportion of diagnosis cost and drug cost of the top 10 diseases was generally higher, while the proportion of consumable cost of a few diseases was higher. Among the diseases with top 10 repeated hospitalization rates, the rate of repeated hospitalization ranged from 25% to 64%.Conclusion The rare diseases in this hospital had large age span, diverse disease types, high hospitalization costs and large individual differences, which was representative to a certain extent, and can provide reference for promoting the research on rare diseases in Shaanxi Province and even the northwest region.