CLCN7基因突变致2型常染色体显性遗传骨硬化症一个家系报告  

Autosomal dominant osteopetrosis typeⅡcaused by CLCN7 mutation:a family report

作　　者：王晨秀 章振林[2] WANG Chen-xiu;ZHANG Zhen-lin(Department of Endocrinology,Jiangxi Provincial People's Hospital,Nanchang University Medical College,Nanchang 360003,China;Department of Osteoporosis and Bone Disease,Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University,Shanghai Clinical Research Center of Bone Disease,Shanghai 200233,China)

机构地区：[1]南昌大学医学院、江西省人民医院内分泌科,南昌330000 [2]上海交通大学附属第六人民医院骨质疏松与骨病专科,上海市骨疾病临床研究中心,上海200233

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2022年第5期529-533,共5页Chinese Journal Of Osteoporosis And Bone Mineral Research

摘　　要：报道一个无临床症状而以X线摄片表现为广泛骨密度增高,椎体呈“夹心征”,髋关节呈“骨中骨征”的常染色体显性遗传性骨硬化症2型家系。基因检测为氯离子第7通道(chloride channel 7,CLCN7)的10号外显子处发生核苷酸突变(杂合错义突变),导致p.Arg286Trp。通过文献复习进一步总结常染色体显性遗传性骨硬化症2型的临床表现和诊疗特点。The article reported a family with autosomal dominant osteosclerosis type 2 with no clinical symptoms but X-ray radiographs showing extensive bone density increase,sandwich vertebrea,and“bone-in-bone sign”in hip.Gene detection revealed that a heterozygous missense mutation occurred in exon 10 of gene encoding chloride channel 7(CLCN7),resulting in p.Arg286Trp.This article further summarized the clinical manifestations,diagnosis,and treatment of autosomal dominant osteopetrosis typeⅡthrough literature review.

关 键 词：骨硬化症 常染色体显性遗传 CLCN7基因 突变 

分 类 号：R681[医药卫生—骨科学]