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Clinica Chimica Acta：预测产后非典型溶血性尿毒症的发病率

2020-04-13 MedSci原创 MedSci原创

非典型溶血性尿毒症；发病率
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妊娠相关非典型溶血性尿毒综合征(p-aHUS)是一种溶血性贫血、血小板减少症和急性肾衰竭三联症，可能是由于补体激活失控所致。在此，我们对一位产后HaHUS患者进行了测序，发现了CD46的两个错义变异，

妊娠相关非典型溶血性尿毒综合征(p-aHUS)是一种溶血性贫血、血小板减少症和急性肾衰竭三联症，可能是由于补体激活失控所致。在此，我们对一位产后HaHUS患者进行了测序，发现了CD46的两个错义变异，一个是来自她父亲的一个新的突变（c.403G>C，p.G135R），另一个是来自母亲的，但曾经报道过的突变（c.293C>T，p.T98I），没有进行表达和功能检测。G135R突变导致外周血淋巴细胞和肾细胞中CD46的膜表达明显减少。T98I突变导致外周血淋巴细胞中CD46的膜表达轻度降低。此外，表达的G135R蛋白呈前体形式，表明该突变体在细胞内被保留。T98I突变体的C3b结合能力略有下降，而C4b结合能力无明显变化。表明两个突变体对因子I在C3b降解中的辅因子能力受损。

本研究报道了第一例四代产后HHUS血统中分离出的CD46变异体，其详细的疾病进展、治疗和预后为了解该病提供了更多有意义的信息。

原始出处：

Hao Wu，Zhaomin Mao，Genetic and functional analysis of two missense mutations in CD46 predispose to postpartum atypical hemolytic uremic syndrome

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    2020-06-06 lifestar

    #发病率#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1823624, encodeId=189f1823624b7, content=<a href='/topic/show?id=b2873e9220e' target=_blank style='color:#2F92EE;'>#发病率#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37922, encryptionId=b2873e9220e, topicName=发病率)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=aa0e14, createdName=lifestar, createdTime=Sat Jun 06 00:16:15 CST 2020, time=2020-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849920, encodeId=ae44184992073, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Sun Jan 10 13:16:15 CST 2021, time=2021-01-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1290432, encodeId=7beb1290432cc, content=<a href='/topic/show?id=facb4e432e4' target=_blank style='color:#2F92EE;'>#尿毒症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=47432, encryptionId=facb4e432e4, topicName=尿毒症)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=74c2229, createdName=tcm99hq, createdTime=Tue Apr 14 23:16:15 CST 2020, time=2020-04-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1492623, encodeId=e81b14926237d, content=<a href='/topic/show?id=9b7c9929363' target=_blank style='color:#2F92EE;'>#非典型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=99293, encryptionId=9b7c9929363, topicName=非典型)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6bb98946820, createdName=sjzlzc010, createdTime=Tue Apr 14 23:16:15 CST 2020, time=2020-04-14, status=1, ipAttribution=)]
    2021-01-10 windight

    #CTA#

    0

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    2020-04-14 tcm99hq

    #尿毒症#

    0

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    2020-04-14 sjzlzc010

    #非典型#

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