中华骨质疏松和骨矿盐疾病杂志2025，Vol.18Issue(4)：393-399,7.DOI:10.3969/j.issn.1674-2591.2025.04.001
遗传性骨病诊疗现状和研究体会
Current status and research perspectives on diagnosis and treatment of genetic bone diseases
摘要
Abstract
According to the 2023 taxonomy,genetic bone diseases can be classified into 41 groups encom-passing 771 distinct disorders,characterized by complex clinical phenotypes,high genetic heterogeneity,low early diagnosis rates and limited treatment options.This article combines the authors'clinical research experiences to elaborate on the clinical distribution characteristics,diagnoses,treatments,and existing challenges of hereditary bone diseases.关键词
遗传性骨病/骨发育不良/成骨不全/低血磷佝偻病Key words
genetic bone disease/skeletal dysplasia/osteogenesis imperfecta/hypophosphatemic rickets分类
医药卫生引用本文复制引用
章振林,徐杨,李珊珊,岳华..遗传性骨病诊疗现状和研究体会[J].中华骨质疏松和骨矿盐疾病杂志,2025,18(4):393-399,7.基金项目
国家自然科学基金(82300985) （82300985）
上海市第六人民医院高层次人才支持培育计划项目(ynljzc202408) （ynljzc202408）
上海市内分泌代谢疾病研究中心(2022ZZ01002) （2022ZZ01002）
