论文摘要
纤维结构不良与骨性纤维结构不良均属骨的良性纤维性病变。由于组织学表现的相似性,这两种病变是属于相同、还是不同的疾病一直存在争议。近年来从分子遗传学角度对这两种病变的研究取得了一些进展,本文从病因、病理、诊断、治疗及遗传学角度对这两种病变进行对比分析。纤维结构不良是一种非遗传性疾病,表现为单骨或多骨性病变,以畸形、疼痛和病理性骨折为特点。它是在胚胎早期,编码骨母细胞或其他细胞胞膜G蛋白α亚单位的基因GNAS（GTP-binding protein,α-stimulating activity polypeptide）发生突变所引起。GNAS位于20q 13. 2。骨性纤维结构不良是一种起源于纤维组织的良性骨肿瘤。发病率低、误诊率高。目前具体发病机制不明,现认为与常染色体显性遗传有关。骨性纤维结构不良特征性发生于胫骨,偶可发生于腓骨,症状主要为局部肿块。
论文目录
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标签：纤维结构不良论文; 骨性纤维结构不良论文; 釉质瘤论文; 综合征论文;