儿童罕见病诊疗同质化管理模式专家建议

Expert recommendations on homogenization management of the diagnosis and treatment of rare diseases in children

摘要:

儿童罕见病具有患病率低、发病机制复杂、病种多样、难诊难治等特点。随着医疗事业的发展，罕见病诊治技术取得了长足进步，但罕见病诊疗同质化管理体系的建立及推广因各层级医疗资源不对称仍存在诸多不足。为进一步规范儿童罕见病诊疗管理同质化，实现早期精准诊治，改善患儿生存质量，天津市儿童医院（天津大学儿童医院）罕见病诊疗中心邀请相关领域专家从信息建设、层级诊疗、人才培养、科学普及、多方参与等方面撰写了儿童罕见病诊疗同质化管理模式的建议，为儿童罕见病临床诊疗管理体制建设区域同质化提供参考。

Abstract:

Abstract：Rare diseases in children are characterized by low prevalence, complex pathogenesis, variety, and difficulty in the diagnosis and treatment. With the development of medical services, progress has been made in the diagnosis and treatment of rare diseases. However, due to asymmetric allocation of medical resources at different levels, there are still many shortcomings in the establishment and promotion of the homogenized management system of rare disease diagnosis and treatment. In order to further standardize the homogenized management of rare diseases in children, achieve early and accurate diagnosis and treatment, and improve the quality of life of the children, the Rare Disease Diagnosis and Treatment Center of Tianjin Children's Hospital (Tianjin University Children's Hospital) invited relevant experts in the field to develop recommendations for the management model of homogenized diagnosis and treatment of rare diseases in children from the aspects of information construction, hierarchical diagnosis and treatment, personnel training, scientific popularization, and multi-participation. The recommendations provide reference for the regional homogenization of clinical diagnosis and treatment management system for children with rare diseases.