[Paget's disease of bone associated with ZNF687 gene mutation: report of a case].

Abstract excerpt

Paget骨病是一种罕见骨代谢异常疾病，其鉴别诊断谱系较广，容易误诊。本文报道1例59岁女性患者。影像学及病理检查显示骨皮质增厚、骨小梁呈“马赛克样”排列，二代测序检出ZNF687基因c.2357C>T杂合突变，确诊为伴ZNF687基因突变的Paget骨病。该亚型罕见，常表现为多骨受累及高碱性磷酸酶水平。经双膦酸盐治疗后患者症状明显改善。本文探讨了其组织学诊断、临床病理特征及鉴别诊断要点。.

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