中国实用儿科杂志

中国实用儿科杂志 ›› 2022, Vol. 37 ›› Issue (8): 613-618.DOI: 10.19538/j.ek2022080610

• “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

溶酶体贮积症的骨改变

  

  1. 北京大学第一医院儿科，北京  100034
  • 出版日期:2022-08-06 发布日期:2022-08-31
  • 通讯作者: 熊晖，电子信箱：xh_bjbj@163.com

Skeletal changes in lysosomal storage diseases

  1. Department of Pediatrics，Peking University First Hospital，Beijing  100034，China
  • Online:2022-08-06 Published:2022-08-31

摘要： 遗传代谢病（inherited metabolic disorders，IMD）是一大类以生化代谢通路中的酶、辅酶或转运体等功能缺陷为特征的单基因遗传病，已命名的IMD近1500种。溶酶体贮积症是由于溶酶体内多种酶、酶激活因子或溶酶体膜蛋白基因变异所致的一大类以多系统损害为特征的遗传代谢病。以黏多糖贮积症为代表的多种溶酶体贮积症可出现特征性的多发性骨发育代谢障碍。该文简要介绍一些以骨改变为特征的溶酶体贮积症。

关键词: 溶酶体贮积症, 黏多糖贮积症, 戈谢病, 骨发育不良

Abstract: Inherited metabolic disorders（IMD） are a large class of monogenic genetic diseases，characterized by functional defects of enzymes，coenzymes or transporters in biochemical metabolic pathways. Nearly 1500 kinds of IMD have been named. Lysosomal storage diseases are a large group of IMD characterized by multisystem damage，which is caused by the genetic variation of various enzymes，enzyme activators or lysosomal membrane proteins in lysosomes. A variety of lysosomal storage diseases represented by mucopolysaccharide storage disease can appear characteristic multiple bone metabolic disorders. Some lysosomal storage diseases characterized by bone changes are introduced briefly in this paper.

Key words: lysosomal storage disease, mucopolysaccharide storage disease, gaucher disease, dysostoses