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Semin Arthritis Rheu：中国成人系统性自身炎症性疾病的表型和基因型

2019-12-18 xiangting MedSci原创

自身炎症性疾病基因型成人起病NLRP3-AID家族性地中海热
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FMF、NLRP3-AID和NLRP12-AID是中国成人中相对常见的单基因SAIDs。

这项研究旨在表征中国成人系统性自身炎症性疾病（SAIDs）的表型和基因型。

研究人员前瞻性评估了2015年4月至2017年10月在北京协和医院成人SAIDs中心疑诊SAIDs的92例成年患者（≥16岁）的临床和遗传学特征。如果临床表型和遗传学确诊都符合，则认为可以明确诊断。将这些患者的临床表现与儿科人群和其他国家的患者进行了比较。

对50例患者做出了SAIDs的最终诊断，其中包括13例家族性地中海热（FMF）、10例NLRP12相关自身炎症性疾病（NLRP12-AID）、7例NLRP3相关自身炎症性疾病（NLRP3-AID）、5例肿瘤坏死因子受体相关的周期性发热综合征（TRAPS）、3例布劳综合征、3例姚氏综合征（YAOS）和9例周期性发热、口疮性口炎、咽炎和颈淋巴腺炎综合征（PFAPA）。30例患者为成年期的首次发病，最终诊断延迟的中位时间为9年。成人单基因SAIDs患者通常携带低外显突变，并且所有基因变异均表现为杂合或复合杂合。中国成人SAIDs患者的临床表现发生率与其他国家的成人患者相似，但与儿科人群不同。

FMF、NLRP3-AID和NLRP12-AID是中国成人中相对常见的单基因SAIDs。成年起病的SAIDs可能与低外显突变有关，与儿童起病的SAIDs相比，成人SAIDs特征是非特异性、不完全或非典型的疾病类型，从而导致诊断延迟。

原始出处：

Hua Yichao. Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases. Semin Arthritis Rheu. December 2019.

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    2020-06-28 ms9651749636653578

    #炎症性疾病#

    0

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    2020-08-09 kzlchina

    #基因型#

    0

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    2020-10-17 qingrejiedu

    #系统性#

    0

  4. 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createdName=wxl882001, createdTime=Tue Dec 31 21:19:32 CST 2019, time=2019-12-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1357336, encodeId=ad1c135e33668, content=<a href='/topic/show?id=b0702e84b9' target=_blank style='color:#2F92EE;'>#ART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2784, encryptionId=b0702e84b9, topicName=ART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1535245, encodeId=c9bd1535245eb, content=<a href='/topic/show?id=099f9020145' target=_blank style='color:#2F92EE;'>#表型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=90201, encryptionId=099f9020145, topicName=表型)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9b6412593156, createdName=tastas, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1547289, encodeId=accb154e2890c, content=<a href='/topic/show?id=4ef26e01766' target=_blank style='color:#2F92EE;'>#炎症性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=67017, encryptionId=4ef26e01766, topicName=炎症性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=09e813968720, createdName=12498dd9m15暂无昵称, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=)]
    2020-10-11 ms6390871039024434

    #Arthritis#

    0

  5. 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encryptionId=099f9020145, topicName=表型)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9b6412593156, createdName=tastas, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1547289, encodeId=accb154e2890c, content=<a href='/topic/show?id=4ef26e01766' target=_blank style='color:#2F92EE;'>#炎症性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=67017, encryptionId=4ef26e01766, topicName=炎症性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=09e813968720, createdName=12498dd9m15暂无昵称, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=)]
    2020-04-02 12498dd9m11暂无昵称

    #自身炎症性疾病#

    0

  6. 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encryptionId=099f9020145, topicName=表型)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9b6412593156, createdName=tastas, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1547289, encodeId=accb154e2890c, content=<a href='/topic/show?id=4ef26e01766' target=_blank style='color:#2F92EE;'>#炎症性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=67017, encryptionId=4ef26e01766, topicName=炎症性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=09e813968720, createdName=12498dd9m15暂无昵称, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=)]
    2020-05-21 bluefate121

    #自身炎症#

    0

  7. 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createdBy=f984116, createdName=kzlchina, createdTime=Sun Aug 09 21:38:00 CST 2020, time=2020-08-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2017193, encodeId=5976201e19337, content=<a href='/topic/show?id=9760e69058c' target=_blank style='color:#2F92EE;'>#系统性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=76905, encryptionId=9760e69058c, topicName=系统性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2b9b368, createdName=qingrejiedu, createdTime=Sat Oct 17 20:38:00 CST 2020, time=2020-10-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1972685, encodeId=86f719e2685dd, content=<a href='/topic/show?id=8a6a2e8839' target=_blank style='color:#2F92EE;'>#Arthritis#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, 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createdName=wxl882001, createdTime=Tue Dec 31 21:19:32 CST 2019, time=2019-12-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1357336, encodeId=ad1c135e33668, content=<a href='/topic/show?id=b0702e84b9' target=_blank style='color:#2F92EE;'>#ART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2784, encryptionId=b0702e84b9, topicName=ART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1535245, encodeId=c9bd1535245eb, content=<a href='/topic/show?id=099f9020145' target=_blank style='color:#2F92EE;'>#表型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=90201, encryptionId=099f9020145, topicName=表型)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9b6412593156, createdName=tastas, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1547289, encodeId=accb154e2890c, content=<a href='/topic/show?id=4ef26e01766' target=_blank style='color:#2F92EE;'>#炎症性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=67017, encryptionId=4ef26e01766, topicName=炎症性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=09e813968720, createdName=12498dd9m15暂无昵称, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=)]
    2019-12-31 wxl882001

    了解一下

    0

  8. 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createdBy=f984116, createdName=kzlchina, createdTime=Sun Aug 09 21:38:00 CST 2020, time=2020-08-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2017193, encodeId=5976201e19337, content=<a href='/topic/show?id=9760e69058c' target=_blank style='color:#2F92EE;'>#系统性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=76905, encryptionId=9760e69058c, topicName=系统性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2b9b368, createdName=qingrejiedu, createdTime=Sat Oct 17 20:38:00 CST 2020, time=2020-10-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1972685, encodeId=86f719e2685dd, content=<a href='/topic/show?id=8a6a2e8839' target=_blank style='color:#2F92EE;'>#Arthritis#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, 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createdName=wxl882001, createdTime=Tue Dec 31 21:19:32 CST 2019, time=2019-12-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1357336, encodeId=ad1c135e33668, content=<a href='/topic/show?id=b0702e84b9' target=_blank style='color:#2F92EE;'>#ART#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2784, encryptionId=b0702e84b9, topicName=ART)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1535245, encodeId=c9bd1535245eb, content=<a href='/topic/show?id=099f9020145' target=_blank style='color:#2F92EE;'>#表型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=90201, encryptionId=099f9020145, topicName=表型)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9b6412593156, createdName=tastas, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1547289, encodeId=accb154e2890c, content=<a href='/topic/show?id=4ef26e01766' target=_blank style='color:#2F92EE;'>#炎症性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=67017, encryptionId=4ef26e01766, topicName=炎症性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=09e813968720, createdName=12498dd9m15暂无昵称, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=)]
    2019-12-20 zhaojie88

    #ART#

    0

  9. 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encryptionId=099f9020145, topicName=表型)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9b6412593156, createdName=tastas, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1547289, encodeId=accb154e2890c, content=<a href='/topic/show?id=4ef26e01766' target=_blank style='color:#2F92EE;'>#炎症性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=67017, encryptionId=4ef26e01766, topicName=炎症性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=09e813968720, createdName=12498dd9m15暂无昵称, createdTime=Fri Dec 20 02:38:00 CST 2019, time=2019-12-20, status=1, ipAttribution=)]
    2019-12-20 tastas

    #表型#

    0

  10. 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    2019-12-20 12498dd9m15暂无昵称

    #炎症性#

    0

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