Zhongguo Dang Dai Er Ke Za Zhi. 2023 Jul 15;25(7):663-671. doi: 10.7499/j.issn.1008-8830.2304036.
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.
儿童罕见病具有患病率低、发病机制复杂、病种多样以及诊断和治疗困难等特点。随着医疗服务的发展，罕见病的诊断和治疗取得了进展。然而，由于不同层面医疗资源分配不均衡，在建立和推进罕见病诊疗同质化管理体系方面仍存在诸多不足。为进一步规范儿童罕见病的同质化管理，实现早期准确诊断和治疗，提高患儿生活质量，天津市儿童医院（天津大学儿童医院）罕见病诊疗中心邀请该领域相关专家，从信息建设、分级诊疗、人才培养、科普宣传及多方参与等方面，制定儿童罕见病同质化诊疗管理模式的建议。这些建议为儿童罕见病临床诊疗管理体系的区域同质化提供参考。
