Analysis of the Current Status of Rare Diseases Based on 1 884 Cases of Hospitalized Children in the Specialized Disease Database of a Children's Hospital in Henan Province

MA Ang; WEI Haiyan; CHEN Yongxing; ZHAO Shuai; WANG Mengqin; ZHAO Xiaotong; GU Yu; MEI Daoqi; ZHANG Yaodong

doi:10.3969/j.issn.1004-437X.2025.22.001

Abstract：Objective To establish a specialized database for rare diseases in children,to realize the integration and sharing of medical data resources,and to provide data basis and support for the study of clinical research problems of rare diseases in children.Methods Based on the overall informatization of the hospital,Big data technology was used to extract,integrate,and deeply data governance of multiple business information systems of Children's Hospital of Henan Province from 2013 to 2022,a rare disease database for children was constructed,and the consultation information of children admitted to the hospital with rare diseases was statistically analyzed.Results The initial construction of the database of rare diseases in children was completed.A total of 1 884 inpatients admitted in the last ten years from 2013-2022 were counted.Among them,1 065 were males and 819 were females.Rare disease patients were distributed in all age groups,with infancy predominant.The number of patients admitted from 2013-2019 increased year by year,with more male patients than female patients each year.Patients were widely distributed regionally,with a total of 1 646 rare disease patients admitted in Henan Province,from 18 urban areas in the province.The average age of rare disease patients was 31.50 months,with females higher than males,and the average age distribution from 2014 to 2021 showed an increasing trend.The types of rare diseases varied across different stages of childhood,and there were gender distribution differences among patients with different disease categories.All patients with rare diseases had repeated hospitalization.Conclusion The construction of the database of rare diseases in children has realized the integration and sharing of medical data resources,improved the quality and efficiency of clinical research,and provided a boost to the development of rare diseases in children.