《遗传性骨病分类学:2023版》更新解读及再认识

Interpretation of the updated Nosology of Genetic Skeletal Disorders:2023 edition and reacquaintance

遗传性骨病(genetic skeletal disorders, GSD)种类繁多,由于单种疾病发病率低,都属于罕见病,但对于中国人口大国,遗传性骨病有着较庞大的人群,由于其临床表型和遗传异质性明显,临床上常漏诊或误诊。《遗传性骨病分类学》作为遗传性骨病标准化命名和协助诊断的重要工具,为了应对分子生物学检测技术的发展及对疾病认识的提高,进行了适时更新,并于2023年发布了第11次修订版。本文就最新修订版的更新内容进行解读,同时对既往版本的重要更新、分类学特点和作用及与部分基因数据库的关系等进行阐述。

There are many kinds of genetic skeletal disorders.However,because the morbidity of individual dis-eases is low,they are all rare diseases.China is a populous country with a relatively large population of genetic skeletal disorders.The clinical heterogeneity and genetic heterogeneity of these disorders are obvious,so it is easy for them to es-cape diagnosis or be misdiagnosed.Nosology of Genetic Skeletal Disorders serves as an important tool for standardized na-ming and assisting diagnosis of genetic skeletal disorders.It is updated at a certain time,in order to adapt to the develop-ment of analysis technique of molecular biology and the increased understanding of disease.And it released its 11th revised version in 2023.In this article,we explain the updates in the latest revision.At the same time,we also elaborate on some contents,including important updates from previous versions,the characteristics and roles of nosology,and the relation-ship with some gene databases.