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Blood：先天性血栓性血小板减少性紫癜患者特征与治疗

2019-04-13 MedSci MedSci原创

先天性血栓性血小板减少性紫癜cTTPADAMTS13
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研究对先天性血栓性血小板减少性紫癜患者基因突变与临床表型的相关性进行了研究，预防性治疗可显著降低患者终末器官损伤风险

先天性血栓性血小板减少性紫癜(cTTP)是一种极为罕见的血栓微血管病变，是由于凝血酶致敏蛋白1型基序成员13(ADAMTS 13)的解聚素和金属蛋白酶基因缺失所致，但由于关于基因型-表型相关性的数据有限，治疗上尚未形成共识。

近日研究人员回顾了过去15年来英国cTTP病例，其中73例确诊，93%的患者目前仍存活，36%的患者为纯合子突变，64%为复合杂合子突变。患者发病呈现出两个高峰：儿童期(中位确诊年龄，3.5岁)和成年期 (通常与怀孕有关，中位确诊年龄31岁)。基因突变因发病年龄的不同而存在差异，而早期基因突变更可能与儿童发病有关。69%的成人患者与怀孕有关。常见的治疗手段为新鲜冷冻血浆(FFP)和中纯度因子VIII浓缩物，88%的患者血液计数可恢复正常，但伴有头痛、昏睡或腹痛。目前最常用的3周FFP方案被证明疗效不显著（低于70%），需每周或每两周进行输注。在接受预防性治疗的患者中，脑卒中发生率显著降低（2% vs 17%）。75%的晚期诊断为cTTP的患者存在终末期器官损害。

研究对先天性血栓性血小板减少性紫癜患者基因突变与临床表型的相关性进行了研究，预防性治疗可显著降低患者终末器官损伤风险。

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    2021-08-08 ms3000001741732165

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    2019-11-07 仁者大医

    #血栓性#

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    2019-09-30 Tamikia

    #血小板减少性紫癜#

    0

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encodeId=23e21585028b3, content=<a href='/topic/show?id=05bd8910e67' target=_blank style='color:#2F92EE;'>#血栓性血小板减少性紫癜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=89107, encryptionId=05bd8910e67, topicName=血栓性血小板减少性紫癜)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=81d517104133, createdName=xxxx1055, createdTime=Mon Apr 15 10:21:00 CST 2019, time=2019-04-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1623145, encodeId=e68a1623145af, content=<a href='/topic/show?id=e3935305e39' target=_blank style='color:#2F92EE;'>#患者特征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=53057, encryptionId=e3935305e39, topicName=患者特征)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=450a20505925, createdName=guojianrong, createdTime=Mon Apr 15 10:21:00 CST 2019, time=2019-04-15, status=1, ipAttribution=)]
    2019-08-04 AspirantSuo

    #先天性血栓性血小板减少性紫癜#

    0

  5. 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encodeId=23e21585028b3, content=<a href='/topic/show?id=05bd8910e67' target=_blank style='color:#2F92EE;'>#血栓性血小板减少性紫癜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=89107, encryptionId=05bd8910e67, topicName=血栓性血小板减少性紫癜)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=81d517104133, createdName=xxxx1055, createdTime=Mon Apr 15 10:21:00 CST 2019, time=2019-04-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1623145, encodeId=e68a1623145af, content=<a href='/topic/show?id=e3935305e39' target=_blank style='color:#2F92EE;'>#患者特征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=53057, encryptionId=e3935305e39, topicName=患者特征)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=450a20505925, createdName=guojianrong, createdTime=Mon Apr 15 10:21:00 CST 2019, time=2019-04-15, status=1, ipAttribution=)]
    2019-04-15 lingaifan

    #血小板减少#

    0

  6. 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encodeId=23e21585028b3, content=<a href='/topic/show?id=05bd8910e67' target=_blank style='color:#2F92EE;'>#血栓性血小板减少性紫癜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=89107, encryptionId=05bd8910e67, topicName=血栓性血小板减少性紫癜)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=81d517104133, createdName=xxxx1055, createdTime=Mon Apr 15 10:21:00 CST 2019, time=2019-04-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1623145, encodeId=e68a1623145af, content=<a href='/topic/show?id=e3935305e39' target=_blank style='color:#2F92EE;'>#患者特征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=53057, encryptionId=e3935305e39, topicName=患者特征)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=450a20505925, createdName=guojianrong, createdTime=Mon Apr 15 10:21:00 CST 2019, time=2019-04-15, status=1, ipAttribution=)]
    2019-04-15 huirong

    #先天性#

    0

  7. 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encodeId=23e21585028b3, content=<a href='/topic/show?id=05bd8910e67' target=_blank style='color:#2F92EE;'>#血栓性血小板减少性紫癜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=89107, encryptionId=05bd8910e67, topicName=血栓性血小板减少性紫癜)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=81d517104133, createdName=xxxx1055, createdTime=Mon Apr 15 10:21:00 CST 2019, time=2019-04-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1623145, encodeId=e68a1623145af, content=<a href='/topic/show?id=e3935305e39' target=_blank style='color:#2F92EE;'>#患者特征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=53057, encryptionId=e3935305e39, topicName=患者特征)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=450a20505925, createdName=guojianrong, createdTime=Mon Apr 15 10:21:00 CST 2019, time=2019-04-15, status=1, ipAttribution=)]
    2019-04-15 bluefate124

    #紫癜#

    0

  8. 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createdTime=Mon Apr 15 10:21:00 CST 2019, time=2019-04-15, status=1, ipAttribution=)]
    2019-04-15 xxxx1055

    #血栓性血小板减少性紫癜#

    0

  9. 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createdTime=Mon Apr 15 10:21:00 CST 2019, time=2019-04-15, status=1, ipAttribution=)]
    2019-04-15 guojianrong

    #患者特征#

    0