Analysis of the Composition and Origin of Rare Diseases in 1,517 Children
Objectives This study aims to analyze the composition and sources of rare diseases among children in a provincial children's hospital,so as to provide a reference for hospital construction and epidemiological research on rare diseases in children in the region.Methods The front-page information of inpatient medical records from January 1,2018 to December 31,2022 was retrieved from the medical record management system.1,517 children with rare diseases were screened and statistically analyzed using SPSS25.0 software.The gender differences,disease composition order and regional origin of rare diseases were compared in each age group.Results A total of 1517 pediatric rare diseases were included in this study,accounting for 0.48％of all discharged children.Among the 1517 rare diseases in children,971(64.0％)were boys and 546(36.0％)were girls.There was no statistical difference in the gender composition ratio of each age group.The top 10 diseases were idiopathic pulmonary hypertension,coronary artery ectasia,progressive muscular dystrophy,tuberous sclerosis,osteogenesis imperfecta(brittle bone disease),Langerhans histiocytosis,hemophilia,autoimmune encephalitis,spinal muscular atrophy,and glycogen storage disease(type Ⅰ and type Ⅱ).The difference in the male-female ratio of children with the top 10 rare diseases was statistically significant.According to the analysis of the source composition of the birthplace,Hefei,Fuyang and Lu'an had the highest proportion of children with rare diseases.Conclusions The composition ratio of rare diseases in a hospital varies greatly by gender,age,disease type and source from different regions.According to the characteristics of rare diseases,hospitals should strengthen the screening of community populations and children,reduce the incidence of rare diseases,and detect,intervene and treat them early.The study provides a reference for further management and clinical research of related rare diseases in children.
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