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原发性肥大性骨关节病新发现SLCO2A1杂合突变c.1624C>T1例

Journal of Shandong University (Health Science)(2018)

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Abstract
1 病例资料 患者,男,19岁,因“四肢远端指间关节肿大1年,加重2个月”入院.患者1年前无明显诱因出现四肢远端指间关节肿大,无关节疼痛,无晨僵,无腰痛,无面部红斑,无口腔溃疡及脱发,无口干眼干,无雷诺现象,无发热,无头晕、头痛,无咳嗽、咳痰,无胸闷、憋气等,曾于当地医院就诊给予非甾体消炎药等治疗,症状缓解,后又多次复发,均应用非甾体消炎药后缓解,2个月前患者无明显诱因出现关节肿大加重,为进一步治疗来我院就诊.
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