骨硬化症的诊疗现状  

Diagnosis and treatment of osteosclerosis

作　　者：蒋洁 徐潮 赵家军 Jiang Jie;Xu Chao;Zhao Jiajun(Department of Endocrinology,Shandong Provincial Hospital,Cheeloo College of Medicine,Shandong University/Shandong Clinical Research Center of Diabetes and Metabolic Diseases/Shandong Key Laboratory of Endocrinology and Lipid Metabolism/Shandong Prevention and Control Engineering Laboratory of Endocrine and Metabolic Diseases,Jinan 250021,China)

机构地区：[1]山东大学齐鲁医学院附属省立医院内分泌科,山东省糖尿病与代谢疾病临床医学研究中心,山东省内分泌与脂代谢重点实验室,山东省内分泌与代谢性疾病防治工程实验室,济南250021

出　　处：《国际内分泌代谢杂志》2023年第4期301-304,共4页International Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金项目(81974124);泰山学者计划专项资金项目(tsqn20161071)。

摘　　要：骨硬化症是一种罕见的遗传代谢性骨病,临床表现呈显著异质性,从无症状到表现为致命性临床特征。骨硬化症的诊断主要根据临床表现和影像学诊断相结合,基因检测有助于分型和制定个体化治疗方案。造血干细胞治疗是部分类型骨硬化症的根治方法,但可能出现致死性并发症。基因治疗有望作为造血干细胞治疗的根治疗法,目前仅限于临床前研究。本文将结合近年来国内外研究,对骨硬化症的诊治现状进行总结,以供参考。Osteopetrosis is a rare hereditary metabolic bone disease with significant clinical heterogeneity,and the clinical feature of osteopetrosis ranges from asymptomatic to fatal.The diagnosis of osteopetrosis is mainly decided according to the combination of clinical manifestations and imaging examinations.In addition,genetic testing is helpful for the confirming of the classification of osteopetrosis and more individualized treatment strageties for specified patient.Hematopoietic stem cell therapy(HSCT)is the radical cure for part of osteopetrosis,while fatal complications may occur.Gene therapy is a promising replacement therapy for HSCT,but it is limited to preclinical research currently.This article summarizes the status of diagnosis and treatment of osteopetrosis for reference by combining the domestic and foreign research in recent years.

关 键 词：骨硬化症 诊断 治疗 

分 类 号：R68[医药卫生—骨科学]