长城会2015:遗传性心脏猝死综合征孕前基因诊断

2015-11-03 北京大学人民医院 刘文玲 中国医学论坛报

遗传性心脏猝死综合征是一组以恶性心律失常为主要临床表现的遗传性疾病,是引起青少年和儿童猝死的主要原因。分为离子通道病和非离子通道病 , 主要包括长QT综合征(LQT),短QT综合征(SQT),Brugada综合征,儿茶酚胺敏感性多形性室速(CPVT),早复极综合征(ERS),致心律失常性心肌病(ACM),肥厚型心肌病(HCM)、左室致密化不全(LVNC)等。 目前这些疾病的很多致病基因已

遗传性心脏猝死综合征是一组以恶性心律失常为主要临床表现的遗传性疾病,是引起青少年和儿童猝死的主要原因。分为离子通道病和非离子通道病 , 主要包括长QT综合征(LQT),短QT综合征(SQT),Brugada综合征,儿茶酚胺敏感性多形性室速(CPVT),早复极综合征(ERS),致心律失常性心肌病(ACM),肥厚型心肌病(HCM)、左室致密化不全(LVNC)等。

目前这些疾病的很多致病基因已经明确。基因诊断逐步走向临床。许多疾病指南或专家共识中基因诊断已纳入疾病的诊断标准。但是,此类疾病大多缺少有效的治疗方法,最终被迫植入心脏自动转复除颤器(ICD)保命。因此,现阶段最好的办法是防止这样的患儿出生。患有此类疾病的父母也十分担心生出的宝宝患有同类疾病,所以,很多患者不敢生育。孕前基因诊断(PGD)可以解除患病父母的担忧,使患者能够生育一个或几个健康的宝宝。

植入前基因诊断(PGD)是应用体外受精、胚胎培养, 囊胚滋养层细胞活检进行基因诊断的方法到达。植入前基因诊断(PGD)目前已经应用于200多种不同的遗传性疾病,正扩大到常见的遗传性疾病。目前国外有个别关于遗传性心肌病的PGD的报告。库利夫(Kuliev A)等将PGD应用于家族性肥厚型心肌病和扩张型心肌病及Emery-Dreifuss肌营养不良,获得了良好效果,出生婴儿均不携带致病基因,临床表现正常。

植入前基因诊断在遗传性心脏猝死综合征中的应用,必将给患者带来福音,减少遗传性心脏猝死综合征的发病率,减少青少年的猝死率。

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  2. [GetPortalCommentsPageByObjectIdResponse(id=1859959, encodeId=216b1859959ac, content=<a href='/topic/show?id=cc73951054b' target=_blank style='color:#2F92EE;'>#遗传性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95105, encryptionId=cc73951054b, topicName=遗传性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Sat Dec 19 23:21:00 CST 2015, time=2015-12-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=57198, encodeId=730b5e19847, content=挺好, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/04/25/ba882cb566d3be250a05e2a69b80f2c9.jpg, createdBy=32881678798, createdName=小M医师, createdTime=Thu Jan 14 11:24:00 CST 2016, time=2016-01-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1659556, encodeId=ee4c1659556c7, content=<a href='/topic/show?id=c42845239ef' target=_blank style='color:#2F92EE;'>#孕前#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=45239, encryptionId=c42845239ef, topicName=孕前)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=2c8925003801, createdName=szhvet, createdTime=Fri Jul 08 10:21:00 CST 2016, time=2016-07-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1322737, encodeId=e39b1322e378f, content=<a href='/topic/show?id=355b96891fe' target=_blank style='color:#2F92EE;'>#长城会#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=96891, encryptionId=355b96891fe, topicName=长城会)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ef33504, createdName=wsusan1966, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430557, encodeId=9f07143055e56, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1625748, encodeId=33f51625e4829, content=<a href='/topic/show?id=5ee3418991a' target=_blank style='color:#2F92EE;'>#基因诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41899, encryptionId=5ee3418991a, topicName=基因诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=fdc920855274, createdName=zzc2218, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=42534, encodeId=5a014253400, content=具体基因普检测啥, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=d4d31657290, createdName=1ddded89m27(暂无匿称), createdTime=Wed Nov 04 17:03:00 CST 2015, time=2015-11-04, status=1, ipAttribution=)]
    2016-01-14 小M医师

    挺好

    0

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    2016-07-08 szhvet
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  5. [GetPortalCommentsPageByObjectIdResponse(id=1859959, encodeId=216b1859959ac, content=<a href='/topic/show?id=cc73951054b' target=_blank style='color:#2F92EE;'>#遗传性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95105, encryptionId=cc73951054b, topicName=遗传性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Sat Dec 19 23:21:00 CST 2015, time=2015-12-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=57198, encodeId=730b5e19847, content=挺好, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/04/25/ba882cb566d3be250a05e2a69b80f2c9.jpg, createdBy=32881678798, createdName=小M医师, createdTime=Thu Jan 14 11:24:00 CST 2016, time=2016-01-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1659556, encodeId=ee4c1659556c7, content=<a href='/topic/show?id=c42845239ef' target=_blank style='color:#2F92EE;'>#孕前#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=45239, encryptionId=c42845239ef, topicName=孕前)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=2c8925003801, createdName=szhvet, createdTime=Fri Jul 08 10:21:00 CST 2016, time=2016-07-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1322737, encodeId=e39b1322e378f, content=<a href='/topic/show?id=355b96891fe' target=_blank style='color:#2F92EE;'>#长城会#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=96891, encryptionId=355b96891fe, topicName=长城会)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ef33504, createdName=wsusan1966, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430557, encodeId=9f07143055e56, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1625748, encodeId=33f51625e4829, content=<a href='/topic/show?id=5ee3418991a' target=_blank style='color:#2F92EE;'>#基因诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41899, encryptionId=5ee3418991a, topicName=基因诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=fdc920855274, createdName=zzc2218, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=42534, encodeId=5a014253400, content=具体基因普检测啥, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=d4d31657290, createdName=1ddded89m27(暂无匿称), createdTime=Wed Nov 04 17:03:00 CST 2015, time=2015-11-04, status=1, ipAttribution=)]
  6. [GetPortalCommentsPageByObjectIdResponse(id=1859959, encodeId=216b1859959ac, content=<a href='/topic/show?id=cc73951054b' target=_blank style='color:#2F92EE;'>#遗传性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95105, encryptionId=cc73951054b, topicName=遗传性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Sat Dec 19 23:21:00 CST 2015, time=2015-12-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=57198, encodeId=730b5e19847, content=挺好, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/04/25/ba882cb566d3be250a05e2a69b80f2c9.jpg, createdBy=32881678798, createdName=小M医师, createdTime=Thu Jan 14 11:24:00 CST 2016, time=2016-01-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1659556, encodeId=ee4c1659556c7, content=<a href='/topic/show?id=c42845239ef' target=_blank style='color:#2F92EE;'>#孕前#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=45239, encryptionId=c42845239ef, topicName=孕前)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=2c8925003801, createdName=szhvet, createdTime=Fri Jul 08 10:21:00 CST 2016, time=2016-07-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1322737, encodeId=e39b1322e378f, content=<a href='/topic/show?id=355b96891fe' target=_blank style='color:#2F92EE;'>#长城会#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=96891, encryptionId=355b96891fe, topicName=长城会)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ef33504, createdName=wsusan1966, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430557, encodeId=9f07143055e56, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1625748, encodeId=33f51625e4829, content=<a href='/topic/show?id=5ee3418991a' target=_blank style='color:#2F92EE;'>#基因诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41899, encryptionId=5ee3418991a, topicName=基因诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=fdc920855274, createdName=zzc2218, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=42534, encodeId=5a014253400, content=具体基因普检测啥, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=d4d31657290, createdName=1ddded89m27(暂无匿称), createdTime=Wed Nov 04 17:03:00 CST 2015, time=2015-11-04, status=1, ipAttribution=)]
  7. [GetPortalCommentsPageByObjectIdResponse(id=1859959, encodeId=216b1859959ac, content=<a href='/topic/show?id=cc73951054b' target=_blank style='color:#2F92EE;'>#遗传性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95105, encryptionId=cc73951054b, topicName=遗传性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Sat Dec 19 23:21:00 CST 2015, time=2015-12-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=57198, encodeId=730b5e19847, content=挺好, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/04/25/ba882cb566d3be250a05e2a69b80f2c9.jpg, createdBy=32881678798, createdName=小M医师, createdTime=Thu Jan 14 11:24:00 CST 2016, time=2016-01-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1659556, encodeId=ee4c1659556c7, content=<a href='/topic/show?id=c42845239ef' target=_blank style='color:#2F92EE;'>#孕前#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=45239, encryptionId=c42845239ef, topicName=孕前)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=2c8925003801, createdName=szhvet, createdTime=Fri Jul 08 10:21:00 CST 2016, time=2016-07-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1322737, encodeId=e39b1322e378f, content=<a href='/topic/show?id=355b96891fe' target=_blank style='color:#2F92EE;'>#长城会#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=96891, encryptionId=355b96891fe, topicName=长城会)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ef33504, createdName=wsusan1966, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430557, encodeId=9f07143055e56, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1625748, encodeId=33f51625e4829, content=<a href='/topic/show?id=5ee3418991a' target=_blank style='color:#2F92EE;'>#基因诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41899, encryptionId=5ee3418991a, topicName=基因诊断)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=fdc920855274, createdName=zzc2218, createdTime=Thu Nov 05 02:21:00 CST 2015, time=2015-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=42534, encodeId=5a014253400, content=具体基因普检测啥, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=d4d31657290, createdName=1ddded89m27(暂无匿称), createdTime=Wed Nov 04 17:03:00 CST 2015, time=2015-11-04, status=1, ipAttribution=)]
    2015-11-04 1ddded89m27(暂无匿称)

    具体基因普检测啥

    0