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中华关节外科杂志(电子版) ›› 2026, Vol. 20 ›› Issue (03) : 387 -390. doi: 10.3877/cma.j.issn.1674-134X.2026.03.017

个案报道

原发性肥大性骨关节病1例并文献复习
张倩瑜1,2, 王欣1, 周祎3, 古明晖4, 万鹏霞5, 曾瑞曦6, 李海7, 陈崴1, 蒋兰萍1,()   
  1. 1 510080 广州,中山大学附属第一医院肾内科
    2 529100 广东江门,江门市新会区人民医院肾内科
    3 529100 广东江门,江门市新会区人民医院产前诊断中心
    4 529100 广东江门,江门市新会区人民医院关节外科
    5 529100 广东江门,江门市新会区人民医院眼科
    6 529100 广东江门,江门市新会区人民医院整形外科
    7 529100 广东江门,江门市新会区人民医院内分泌科
  • 收稿日期:2025-10-03 出版日期:2026-06-01
  • 通信作者: 蒋兰萍
  • 基金资助:
    国家自然科学基金(81600545); 国家卫生健康委员会重点实验室项目(2002B60118); 广东省肾脏病重点实验室(2020B1212060028)
  • Received:2025-10-03 Published:2026-06-01
引用本文:

张倩瑜, 王欣, 周祎, 古明晖, 万鹏霞, 曾瑞曦, 李海, 陈崴, 蒋兰萍. 原发性肥大性骨关节病1例并文献复习[J/OL]. 中华关节外科杂志(电子版), 2026, 20(03): 387-390.

图1 患者临床特征及影像学表现。图A为额面部皮肤增厚形成皱褶;图B、C为杵状指(趾);图D、E为左侧腕关节正位片及双手X线片,可见骨质增生征象;图F为左膝关节正侧位X线片,可见骨皮质毛糙,各关节面见骨质增生征象
图2 患者的家族谱系图 注:黑色箭头所示为先证者;-携带c.941-1G>A变异;-携带意义未明的c.1069T>C变异
图3 患者基因测序序列峰图
图4 患者用药前后的面容变化。图A代表用药前,图B代表用药3月,图C代表用药6月,图D代表用药12月
图5 患者用药前后左侧胫腓骨正位X光片。图A为治疗前;图B为治疗后
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