遗传性多发性骨软骨瘤合并骨质疏松症一例报告  

Hereditary multiple osteochondroma combined with osteoporosis:a case report

作　　者：曹聪慧 李玉姝[1] 王晓黎[1] CAO Cong-hui;LI Yu-shu;WANG Xiao-li(Department of Endocrinology and Metabolism,Institute of Endocrinology,NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases,The First Affiliated Hospital of China Medical University,Shenyang 110001,China)

机构地区：[1]中国医科大学附属第一医院内分泌与代谢病科内分泌研究所,卫健委(共建)甲状腺疾病诊治重点实验室,沈阳110001

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2023年第1期67-71,共5页Chinese Journal Of Osteoporosis And Bone Mineral Research

摘　　要：报道1例因低钾性周期性麻痹就诊的遗传性多发性骨软骨瘤(hereditary multiple osteochondroma,HME)合并骨质疏松症患者的基因和临床特点,并对相关文献进行回顾性分析,提示对于中青年HME患者要注重监测骨密度和骨代谢标志物,从而早期防治骨量减少,这也为继发性骨质疏松症的病因提供了新的观点。We report the genetic and clinical characteristics of a case of hypokalemic periodic paralysis,combined with hereditary multiple osteochondroma(HME)and osteoporosis.We then reviewed the literature.This report indicates that among young and middle-aged HME patients,we should monitor their bone density and bone metabolic indicators for early prevention and treatment of bone loss.This report also provides a new perspective on the causes of secondary osteoporosis.

关 键 词：遗传性多发性骨软骨瘤 EXT1基因 继发性骨质疏松症 低钾性周期性麻痹 

分 类 号：R681[医药卫生—骨科学]