中国儿童遗传性肾脏病数据库的建立及应用

Establishment and application of a database for hereditary kidney disease in Chinese children

遗传性肾脏病是儿童和青少年慢性肾脏病的重要病因,也是成人期慢性肾脏病发病和进展中不容忽视的因素。构建遗传性肾脏病注册共享系统,形成具有中国人群特异性代表性数据,对于实现表型-基因型刻画、提高精准管理水平和病因机制研究具有重要意义。疾病异质性高、患者散在分布等特点使遗传性肾脏病缺乏认识和统一管理规范。由儿童肾脏病专科医师和遗传学专家主导,通过整合各中心数据源可发挥临床资源优势。聚焦不同亚类病种队列,整合分析基因型、多组学和临床结局等数据,可实现遗传性肾脏病疾病全链条诊治关键点的突破。

Hereditary kidney diseases are common causes of chronic kidney disease(CKD)in children and adolescents,and also has an important role in the onset and progression of CKD in adulthood.Constructing a data sharing registration system for hereditary kidney disease and forming representative data with Chinese population specificity,is of great significance for achieving phenotype and genotype characterization,improving precision management level and mechanism research.The high heterogeneity of the disease and the scattered distribution of patients have led to a lack of understanding and unified management standards for hereditary kidney disease.Led by pediatric nephrology specialists and geneticists,integrating data sources from various centers can leverage clinical resource advantages.Focusing on different subtype disease cohorts,integrating and analyzing data such as genotype,multi-omics,and clinical outcomes,can achieve breakthroughs in the key points of disease diagnosis and treatment.