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Diabetologia：TRMA综合征中硫胺素治疗的结果

2018-05-31 MedSci MedSci原创

TRMA综合征治疗
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近日，国际杂志 《Diabetologia》上在线发表一项关于糖尿病药物基因组学：TRMA综合征中硫胺素治疗的结果的研究。 糖尿病是硫胺素反应性巨幼细胞性贫血（TRMA）综合征的主要特征之一。目前对这种罕见的单基因型糖尿病亚型的了解有限。研究人员调查了与TRMA相关的糖尿病患者队列中的硫胺素（维生素B 1）的基因型，表型和反应。 研究人员对由Sanger或下一代测序鉴定的32个具有双等

近日，国际杂志 《Diabetologia》上在线发表一项关于糖尿病药物基因组学：TRMA综合征中硫胺素治疗的结果的研究。 糖尿病是硫胺素反应性巨幼细胞性贫血（TRMA）综合征的主要特征之一。目前对这种罕见的单基因型糖尿病亚型的了解有限。研究人员调查了与TRMA相关的糖尿病患者队列中的硫胺素（维生素B 1）的基因型，表型和反应。 研究人员对由Sanger或下一代测序鉴定的32个具有双等位基因SLC19A2突变的个体开展了研究，并通过跟踪问卷收集临床细节。 研究人员确定了24种不同的突变，其中9种是新的。第一次TRMA症状的发生从出生到4岁（中位数6个月[四分位间距，IQR 3-24]），糖尿病发病的中位年龄为10个月（IQR 5-27）。在首诊时，三名患者为糖尿病，另外12人患有无症状性高血糖。15名接受硫胺素治疗的中位随访数据为4.7年（IQR 3-10）。4名患者能够停止胰岛素治疗，7名患者在较低的胰岛素剂量下获得了更好的血糖控制。这11名患者在糖尿病诊断(p = 0.042)、基因检测(p = 0.01)和开始使用硫胺(p = 0.007)方面明显较其他队列年轻。所有接受硫胺素治

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    2019-01-19 ms9608593228839890

    #DIA#

    0

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    2018-07-25 ms5439512287675881

    #BET#

    0

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    2018-06-04 yfjms

    学习

    0

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    2018-06-03 虈亣靌

    好好学习一下天天向上

    0

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    2018-06-02 zhouqu_8

    #综合征#

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1638628, encodeId=dc2a163862830, content=<a href='/topic/show?id=afda591646' target=_blank style='color:#2F92EE;'>#DIA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5916, encryptionId=afda591646, topicName=DIA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=987022654425, createdName=ms9608593228839890, createdTime=Sat Jan 19 12:08:00 CST 2019, time=2019-01-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1760696, encodeId=62bc1e6069645, content=<a href='/topic/show?id=9bea33520d' target=_blank style='color:#2F92EE;'>#BET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3352, encryptionId=9bea33520d, topicName=BET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9a1a37427546, createdName=ms5439512287675881, createdTime=Wed Jul 25 21:08:00 CST 2018, time=2018-07-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=321344, encodeId=546932134448, content=学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c3da1990174, createdName=yfjms, createdTime=Mon Jun 04 07:42:10 CST 2018, time=2018-06-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=321211, encodeId=b3ce321211fc, content=好好学习一下天天向上, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zMoyicyo6ia9f4IuLQAwZoxD6Hx4ibd5CMcOCYhStY6oDibbKK6O2X8iaicldO5ib8j1iapOIobIKCGiczU2A/0, createdBy=56251941490, createdName=虈亣靌, createdTime=Sun Jun 03 21:39:59 CST 2018, time=2018-06-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1431227, encodeId=eb62143122e5b, 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=38, 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=Sat Jun 02 12:08:00 CST 2018, time=2018-06-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1508484, encodeId=a6821508484cb, content=<a href='/topic/show?id=7217e356711' target=_blank style='color:#2F92EE;'>#硫胺素#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=52, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=73567, encryptionId=7217e356711, topicName=硫胺素)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=87989977401, createdName=sjq030, createdTime=Sat Jun 02 12:08:00 CST 2018, time=2018-06-02, status=1, ipAttribution=)]
    2018-06-02 sjq030

    #硫胺素#

    0