石骨症伴CLCN7基因突变1例  

Osteopetrosis with CLCN7 Gene Mutation: A Case Report

作　　者：曹永庆 查春红[1] CAO Yongqing;ZHA Chunhong(Affiliated Stomatological Hospital of Nanchang University,Jiangxi Province Key Laboratory of Oral Biomedicine,Jiangxi Province Clinical Research Center for Oral Diseases,Nanchang 330000,China)

机构地区：[1]南昌大学附属口腔医院、江西省口腔生物医学重点实验室、江西省口腔疾病临床医学研究中心,江西南昌330000

出　　处：《口腔医学研究》2024年第3期272-274,共3页Journal of Oral Science Research

摘　　要：石骨症(osteopetrosis,OP)又名粉笔样骨、大理石骨病等,是一种罕见的、原因不明的因破骨细胞数量减少或功能异常的具有遗传倾向的代谢性骨病。临床表现复杂多样,影像学表现主要以全身骨密度广泛增高。本文报道一例石骨症伴下颌骨骨髓炎患者资料,复习既往文献,对该疾病的发病机制、临床分型及治疗作一概述,为以后临床治疗此类疾病提供参考。Osteopetrosis(OP),also known as chalk like bone disease or marble bone disease,is a rare and unexplained metabolic bone disease with genetic predisposition due to reduced osteoclast count or abnormal function.The clinical manifestations are complex and diverse,with imaging manifestations mainly characterized by widespread increase in bone density throughout the body.This article reports the data of a patient with osteopetrosis accompanied by mandibular osteomyelitis.Previous literature is reviewed to provide an overview of the pathogenesis,clinical classification,and treatment,providing reference for future clinical treatment of this disease.

关 键 词：石骨症 颌骨骨髓炎 CLCN7 

分 类 号：R681[医药卫生—骨科学] R782.32[医药卫生—外科学]