中国实用儿科杂志

中国实用儿科杂志 ›› 2022, Vol. 37 ›› Issue (8): 575-579.DOI: 10.19538/j.ek2022080603

• “一切为了人民健康———我们这十年”专栏·专题笔谈 • 上一篇    下一篇

遗传性骨病的病因及分类

  

  1. 华中科技大学同济医学院附属同济医院 儿科，湖北  武汉  430030

  • 出版日期:2022-08-06 发布日期:2022-08-31
  • 通讯作者: 梁雁，电子信箱：liangyan@tjh.tjmu.edu.cn

Etiology and classification of genetic skeletal disorders

  1. Department of Pediatric，Tongji Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan  430030，China
  • Online:2022-08-06 Published:2022-08-31

摘要： 遗传性骨病（genetic skeletal disorders，GSD）是一类由遗传物质改变导致的遗传性疾病。遗传性骨病虽然相对罕见，但其致畸率、致残率高，会影响青少年的身心健康。近年来，随着分子生物学检测技术的发展，遗传性骨病中许多潜在的致病基因被发现。该文主要聚焦遗传性骨病的病因和分类，希望能为我国GSD的临床诊疗及科学研究提供帮助。

关键词: 遗传性骨病, 病因, 分类, 致病基因

Abstract: Genetic skeletal disorders（GSD） are genetic diseases caused by the alteration of genetic materials. Genetic skeletal disorders are relatively rare， but often lead to high rate of deformity and disability，which affects physical and mental health of adolescents. In recent years， with the development molecular biolagical detection techniques，many underlying pathogenic genes of GSD have been discovered. This article focuses on the etiology and classification of genetic skeletal disorders， hoping to provide help for the clinical diagnosis， treatment and scientific research of GSD in China.

Key words: genetic skeletal disorders, etiology, classification, pathogenic gene