遗传性多发性骨软骨瘤研究进展.pdf

· 232 · 临床儿科杂志第 34 卷第 3 期 2016 年 3 月J Clin Pediatr Vol.34 No.3 Mar. 2016 doi:10.3969 j.issn.1000-3606.2016.03.019 ·文献综述· 遗传性多发性骨软骨瘤研究进展 李玉婵综述 汤静燕审校 上海交通大学医学院附属上海儿童医学中心( 上海 200127) 摘要： 遗传性多发性骨软骨瘤是一种常染色体显性遗传性疾病，主要表现为多发的、位于四肢长骨干骺端或扁骨表 面的、由软骨帽覆盖的良性肿瘤。由于肿瘤可干扰正常骨骺的生长导致骨骼畸形，患者大多身材矮小、肢体力线异常以及 功能障碍。目前研究发现， 基因突变与软骨瘤的形成有关， 基因参与硫酸乙酰肝素的合成，突变基因将导致软骨 EXT EXT 分化异常。文章综述遗传性多发性骨软骨瘤的临床症状、病理生化机制、基因型和表型相关性以及治疗方法等方面的研究 进展。 关键词： 遗传性多发性骨软骨瘤； EXT 基因； 常染色体显性遗传性疾病 Research progress in hereditary multiple exostoses Reviewer: LI Yuchan, Reviser: TANG Jingyan (Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China) Abstract: Hereditary multiple exostoses (HME) is an autosomal dominant genetic disease characterized by multiple benign cartilage-capped tumors primarily at the juxta-epiphyseal region of the long bone or on the flat bones. Because the tumor can interfere with normal epiphysis, it causes bone deformities. The clinical features include short stature, the mechanical axis deviation, and function impairment. Recent studies showed that EXT gene mutation was associated with HEM. The EXT gene was involved in the biosynthesis of heparin sulfate. The gene mutations resulted in abnormal chondrocyte differentiation. This paper reviews the research progress in clinical manifestation, pathogenesis, biochemistry, the genotype-phenotype correlations, and treatment in HME. Key words: hereditary multiple exostoses; EXT gene; autosomal dominant genetic disease 遗传性多发性骨软骨瘤是一种常染色体显性遗 1 临床表现 传性疾病，主要表现为多发的、位于四肢长骨干骺端 或扁骨表面的、由软骨帽覆盖的良性肿瘤，在影像学 多发性骨软骨瘤患者的临床表现各异，取决于肿 上有