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NEJM：轻链淀粉样变性所致的巨舌症-病例报道

2018-06-14 xing.T MedSci原创

轻链淀粉样变性巨舌症吞咽
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在原发性全身性或AL淀粉样变性中组织内沉积单克隆轻链。AL淀粉样变性是巨舌症公认的原因。早期诊断和治疗是预防不可逆器官损害的关键。该患者在并发症吸入性肺炎发生后不久死亡。

患者为一名78岁的男性，因全身水肿、虚弱和胸痛2周而到急诊就诊。他报告在过去的一年里他的舌头变得越来越大，越来越僵硬，也变得难以吞咽。

体格检查显示巨舌症，牙齿凹陷（如图A所示）。实验室检查结果显著的蛋白尿（蛋白尿分析2+和收集的24小时尿液中含505mg蛋白质）和肌钙蛋白I（1.99μg/L[参考范围＜0.06]）和N-末端脑利钠肽（58302mg/mL）的水平升高[参考范围＜450]）。



经胸超声心动图和心脏磁共振成像检查结果均为浸润性心肌病。血清免疫电泳显示游离λ轻链水平升高（2830mg/L；参考范围为8.3-27）。进行舌活检结果证实为轻链（AL）淀粉样变性，刚果红染色后（如图B所示）在偏光显微镜下表现为苹果绿双折射。免疫组化分析显示λ链（未显示）。

在原发性全身性或AL淀粉样变性中组织内沉积单克隆轻链。AL淀粉样变性是巨舌症公认的原因。早期诊断和治疗是预防不可逆器官损害的关键。该患者在并发症吸入性肺炎发生后不久死亡。

原始出处：
 
João Melo Alves.et al.Macroglossia in Light-Chain Amyloidosis.N Engl J Med 2018.https://www.nejm.org/doi/full/10.1056/NEJMicm1716472
 
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    2018-09-26 nakerunner

    #轻链淀粉样变性#

    0

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    2018-06-16 phoebeyan520

    学习了.谢谢

    0

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    2018-06-16 cscdliu

    学习了.谢谢

    0

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    2018-06-15 xjy03

    #淀粉样变#

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=2070028, encodeId=c5e320e00289e, content=<a href='/topic/show?id=8db79364069' target=_blank style='color:#2F92EE;'>#轻链淀粉样变性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=93640, encryptionId=8db79364069, topicName=轻链淀粉样变性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0cd7162, createdName=nakerunner, createdTime=Wed Sep 26 11:45:00 CST 2018, time=2018-09-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=324669, encodeId=260d324669d2, content=学习了.谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=1bb241978, createdName=phoebeyan520, createdTime=Sat Jun 16 14:16:16 CST 2018, time=2018-06-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=324606, encodeId=30ed32460642, content=学习了.谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=55, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/10/23/557c1f19aaf5459a8405411e38903c4b.jpg, createdBy=dfc02088287, createdName=cscdliu, createdTime=Sat Jun 16 09:54:38 CST 2018, time=2018-06-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1405162, encodeId=0b771405162c5, content=<a href='/topic/show?id=cb6e6591850' target=_blank style='color:#2F92EE;'>#淀粉样变#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=65918, encryptionId=cb6e6591850, topicName=淀粉样变)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2ca02527521, createdName=xjy03, createdTime=Fri Jun 15 21:45:00 CST 2018, time=2018-06-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1434665, encodeId=e16914346656d, content=<a href='/topic/show?id=940265920ab' target=_blank style='color:#2F92EE;'>#淀粉样变性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=65920, encryptionId=940265920ab, topicName=淀粉样变性)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Fri Jun 15 21:45:00 CST 2018, time=2018-06-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1463622, encodeId=5d8d1463622f0, content=<a href='/topic/show?id=7d27381288e' target=_blank style='color:#2F92EE;'>#变性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38128, encryptionId=7d27381288e, topicName=变性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Fri Jun 15 21:45:00 CST 2018, time=2018-06-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=324068, encodeId=9b7132406870, content=学习了.长知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20220115/46bcf39c32de4aa6b45c5f9d66c8ee77/6cb4a20c55bb4b7691122f47747bfca2.jpg, createdBy=9dad1662329, createdName=1ddf0692m34(暂无匿称), createdTime=Thu Jun 14 09:36:39 CST 2018, time=2018-06-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=324050, encodeId=5e7532405039, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Thu Jun 14 08:17:19 CST 2018, time=2018-06-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=324010, encodeId=052d32401018, content=学习谢谢分享!, beContent=null, objectType=article, channel=null, level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib2JlGvwpAibiaovVhfA9DbO7X7JLGGjM4Cic6oMgxLdnuS9piaP9cnG2OwIbkzHvX0qzS1boibyYNqR5vHZu7HQs5EIB/0, createdBy=298d1398341, createdName=lou.minghong, createdTime=Thu Jun 14 07:19:53 CST 2018, time=2018-06-14, status=1, ipAttribution=)]
    2018-06-15 zhouqu_8

    #淀粉样变性#

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=2070028, encodeId=c5e320e00289e, content=<a href='/topic/show?id=8db79364069' target=_blank style='color:#2F92EE;'>#轻链淀粉样变性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=93640, encryptionId=8db79364069, topicName=轻链淀粉样变性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0cd7162, createdName=nakerunner, createdTime=Wed Sep 26 11:45:00 CST 2018, time=2018-09-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=324669, encodeId=260d324669d2, content=学习了.谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=1bb241978, createdName=phoebeyan520, createdTime=Sat Jun 16 14:16:16 CST 2018, time=2018-06-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=324606, encodeId=30ed32460642, content=学习了.谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=55, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/10/23/557c1f19aaf5459a8405411e38903c4b.jpg, createdBy=dfc02088287, createdName=cscdliu, createdTime=Sat Jun 16 09:54:38 CST 2018, time=2018-06-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1405162, encodeId=0b771405162c5, content=<a href='/topic/show?id=cb6e6591850' target=_blank style='color:#2F92EE;'>#淀粉样变#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=65918, encryptionId=cb6e6591850, topicName=淀粉样变)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2ca02527521, createdName=xjy03, createdTime=Fri Jun 15 21:45:00 CST 2018, time=2018-06-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1434665, encodeId=e16914346656d, content=<a href='/topic/show?id=940265920ab' target=_blank style='color:#2F92EE;'>#淀粉样变性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=65920, encryptionId=940265920ab, topicName=淀粉样变性)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Fri Jun 15 21:45:00 CST 2018, time=2018-06-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1463622, encodeId=5d8d1463622f0, content=<a href='/topic/show?id=7d27381288e' target=_blank style='color:#2F92EE;'>#变性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38128, encryptionId=7d27381288e, topicName=变性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Fri Jun 15 21:45:00 CST 2018, time=2018-06-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=324068, encodeId=9b7132406870, content=学习了.长知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20220115/46bcf39c32de4aa6b45c5f9d66c8ee77/6cb4a20c55bb4b7691122f47747bfca2.jpg, createdBy=9dad1662329, createdName=1ddf0692m34(暂无匿称), createdTime=Thu Jun 14 09:36:39 CST 2018, time=2018-06-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=324050, encodeId=5e7532405039, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Thu Jun 14 08:17:19 CST 2018, time=2018-06-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=324010, encodeId=052d32401018, content=学习谢谢分享!, beContent=null, objectType=article, channel=null, level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib2JlGvwpAibiaovVhfA9DbO7X7JLGGjM4Cic6oMgxLdnuS9piaP9cnG2OwIbkzHvX0qzS1boibyYNqR5vHZu7HQs5EIB/0, createdBy=298d1398341, createdName=lou.minghong, createdTime=Thu Jun 14 07:19:53 CST 2018, time=2018-06-14, status=1, ipAttribution=)]
    2018-06-15 爆笑小医

    #变性#

    0

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    2018-06-14 1ddf0692m34(暂无匿称)

    学习了.长知识

    0

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    2018-06-14 明月清辉

    谢谢分享.学习了

    0

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    2018-06-14 lou.minghong

    学习谢谢分享!

    0

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