氯离子通道蛋白7(chloride channel 7,CLCN7)是一种特异性位于破骨细胞上的氯离子通道,CLCN7基因缺陷会导致一类以破骨细胞吸收功能障碍为主要特点的骨硬化症.根据临床表现可将CLCN7相关的骨硬化症分为常染色体隐性遗传恶性骨硬化症(autosomal recessive osteopetrosis,ARO)、 常染色体隐性遗传中间型骨硬化症(intermediate autosomal osteopetrosis,IAO)和常染色体显性遗传良性骨硬化症(autosomal dominate osteopetrosis typeⅡ,ADOⅡ).本文对CLCN7基因功能缺陷所导致的骨硬化症的诊断及治疗做一综述.%Chloride channel 7 ( CLCN7) , a member of the chloride channel family specifically resides at the membrane of the osteoclast. The malfunction of this protein could cause an inherited osteopetrosis characterized by the im-paired absorption of osteoclasts. According to different clinical manifestation, the CLCN7-related autosomal osteopetrosis is divided into three types infantile malignant CLCN7-related autosomal recessive osteopetrosis ( ARO) , intermediate autoso-mal osteopetrosis ( IAO ) , and autosomal dominant osteopetrosis type II ( ADOⅡ, Albers-Sch?nberg disease ) . This review will summarize the clinical manifestations and update the treatment of CLCN7-related osteopetrosis.
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