中国实用内科杂志2024，Vol.44Issue(11)：896-900,5.DOI:10.19538/j.nk2024110104
遗传性代谢性骨病治疗进展
Progress in the treatment of hereditary metabolic bone diseases
程博文 1徐潮1
作者信息
- 1. 山东大学附属省立医院山东第一医科大学附属省立医院山东省立医院内分泌科,山东济南 250022
- 折叠
摘要
Abstract
Hereditary metabolic bone disease is a complex and diverse disease characterized by abnormal bone metabolic homeostasis with or without abnormalities of free calcium,phosphate,vitamin D metabolites and other related markers.In recent years,with the continuous development of genome sequencing technology,the detection rate of hereditary metabolic bone disease has increased year by year.According to the type of gene mutations,patients can be divided into tifferent subtypes so that more precise treatment plans are made.This article aims to introduce the current treatment progress in hereditary metabolic bone diseases,which are more common in clinical practice,in order to provide patients with more effective treatment programs after identifying such diseases in clinical work,achievings the treatment goal of alleviating the condition and improving the prognosis.关键词
遗传性代谢性骨病/低磷佝偻病/维生素D依赖性佝偻病/成骨不全/干骺端发育不良Key words
hereditary metabolic bone diseases/hypophosphatemic rickets/vitamin D-dependent rickets/osteogenesis imperfecta/metaphyseal dysplasia分类
医药卫生引用本文复制引用
程博文,徐潮..遗传性代谢性骨病治疗进展[J].中国实用内科杂志,2024,44(11):896-900,5.
