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Diabetes Care：肝细胞核因子1B分子缺陷与糖尿病有啥关系！

2017-04-19 xing.T MedSci原创

HNF1B分子缺陷糖尿病
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由此可见，在HNF1B综合症患者中，糖尿病并发症、心血管疾病的危险因素、3-4期CKD和ESRD是非常普遍的。在糖尿病的诊断中，形态和/或功能性肾脏疾病的存在可能有助于病因诊断。基因型/表型的相关性可能会影响这些患者的治疗和预后。

肝细胞核因子1B（HNF1B）的分子缺陷与多器官疾病相关，包括糖尿病（青年发病的成年型糖尿病）和肾功能异常。HNF1B综合征与HNF1B突变或包括HNF1B在内的跨越15个基因的17q12缺失相关。近日，糖尿病领域权威杂志Diabetes Care上发表了一研究文章，研究人员描述了HNF1B相关的糖尿病以及相关的表型，并且评估了基因型与表型在诊断时和长期的相关性。

这项多中心回顾性队列研究中纳入了201例患者，随访时年龄在18岁以上，其中包括HNF1B突变患者（n=101）或缺失患者（n=100）。

该研究共有159例糖尿病患者，在诊断时，144例患者中有67例患者出现了糖尿病临床症状，并且102例患者中有64例患者发生了HNF1B肾脏疾病。虽然在51名接受测试的患者中有29例患者对磺脲类药物/瑞格列奈有反应，但140例患者中的111例（79%）患者在随访时接受了胰岛素治疗。114例患者中有46例患者出现了糖尿病视网膜病变和/或神经病变。166例患者中有122例患者出现了肾囊肿，169例患者中有75例（44%）患者出现了3-4期慢性肾脏病（CKD），169例患者中有36例（21%）患者发生了终末期肾脏疾病（ESRD）。与突变的患者相比，那些HNF1B缺失的患者在诊断时（11/43 vs. 27/35，P＜10-4）和长期（40/78 vs. 71/91，P=0.0003）发生3-4期CKD/ESRD的患者较少，同时这些患者更瘦，而且使用胰岛素治疗更频繁。

由此可见，在HNF1B综合症患者中，糖尿病并发症、心血管疾病的危险因素、3-4期CKD和ESRD是非常普遍的。在糖尿病的诊断中，形态和/或功能性肾脏疾病的存在可能有助于病因诊断。基因型/表型的相关性可能会影响这些患者的治疗和预后。

原始出处：

Danièle Dubois-Laforgue,et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1 B (HNF1B) Molecular Defects. Diabetes Care 2017. http://care.diabetesjournals.org/content/early/2017/04/13/dc16-2462

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    #肝细胞#

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replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://q.qlogo.cn/qqapp/101296147/1A51842815047D40BFDAA8D69AA8E519/100, createdBy=fd7f2029163, createdName=绛珠草小姐, createdTime=Thu Apr 20 17:50:46 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-05-01 绛珠草小姐

    学习了，谢谢分享

    0

  5. 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replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://q.qlogo.cn/qqapp/101296147/1A51842815047D40BFDAA8D69AA8E519/100, createdBy=fd7f2029163, createdName=绛珠草小姐, createdTime=Thu Apr 20 17:50:46 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-04-26 绛珠草小姐

    学习了，谢谢分享

    0

  6. 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topicList=[TopicDto(id=3352, encryptionId=9bea33520d, topicName=BET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9a1a37427546, createdName=ms5439512287675881, createdTime=Mon Nov 13 15:26:00 CST 2017, time=2017-11-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189633, encodeId=d09218963318, content=学习了谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=60, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c0a61971598, createdName=往日如昨, createdTime=Sat Apr 22 14:31:19 CST 2017, time=2017-04-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1603596, encodeId=d6d71603596f3, content=<a href='/topic/show?id=3831e7930d9' target=_blank style='color:#2F92EE;'>#细胞核#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, 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replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://q.qlogo.cn/qqapp/101296147/1A51842815047D40BFDAA8D69AA8E519/100, createdBy=fd7f2029163, createdName=绛珠草小姐, createdTime=Thu Apr 20 17:50:46 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-11-13 ms5439512287675881

    #BET#

    0

  7. 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replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://q.qlogo.cn/qqapp/101296147/1A51842815047D40BFDAA8D69AA8E519/100, createdBy=fd7f2029163, createdName=绛珠草小姐, createdTime=Thu Apr 20 17:50:46 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-04-22 往日如昨

    学习了谢谢分享

    0

  8. 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createdBy=0045169, createdName=木头人513, createdTime=Wed Jan 24 09:26:00 CST 2018, time=2018-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1863269, encodeId=4c01186326910, content=<a href='/topic/show?id=c0b68135561' target=_blank style='color:#2F92EE;'>#肝细胞#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=81355, encryptionId=c0b68135561, topicName=肝细胞)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=d59291, createdName=xjy02, createdTime=Wed Apr 26 05:26:00 CST 2017, time=2017-04-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=192513, encodeId=e0d519251302, content=学习了，谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://q.qlogo.cn/qqapp/101296147/1A51842815047D40BFDAA8D69AA8E519/100, createdBy=fd7f2029163, createdName=绛珠草小姐, createdTime=Mon May 01 11:14:49 CST 2017, time=2017-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=190759, encodeId=65c1190e59fc, content=学习了，谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=79, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://q.qlogo.cn/qqapp/101296147/1A51842815047D40BFDAA8D69AA8E519/100, createdBy=fd7f2029163, createdName=绛珠草小姐, createdTime=Wed Apr 26 14:00:12 CST 2017, time=2017-04-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1759940, encodeId=144c1e59940c1, content=<a href='/topic/show?id=9bea33520d' target=_blank style='color:#2F92EE;'>#BET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=17, 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=Mon Nov 13 15:26:00 CST 2017, time=2017-11-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189633, encodeId=d09218963318, content=学习了谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=60, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c0a61971598, createdName=往日如昨, createdTime=Sat Apr 22 14:31:19 CST 2017, time=2017-04-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1603596, encodeId=d6d71603596f3, content=<a href='/topic/show?id=3831e7930d9' target=_blank style='color:#2F92EE;'>#细胞核#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, 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replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://q.qlogo.cn/qqapp/101296147/1A51842815047D40BFDAA8D69AA8E519/100, createdBy=fd7f2029163, createdName=绛珠草小姐, createdTime=Thu Apr 20 17:50:46 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-04-21 ying_wu

    #细胞核#

    0

  9. 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topicList=[TopicDto(id=3352, encryptionId=9bea33520d, topicName=BET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9a1a37427546, createdName=ms5439512287675881, createdTime=Mon Nov 13 15:26:00 CST 2017, time=2017-11-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189633, encodeId=d09218963318, content=学习了谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=60, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c0a61971598, createdName=往日如昨, createdTime=Sat Apr 22 14:31:19 CST 2017, time=2017-04-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1603596, encodeId=d6d71603596f3, content=<a href='/topic/show?id=3831e7930d9' target=_blank style='color:#2F92EE;'>#细胞核#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77930, encryptionId=3831e7930d9, topicName=细胞核)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=52c219056124, createdName=ying_wu, createdTime=Fri Apr 21 10:26:00 CST 2017, time=2017-04-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189133, encodeId=a8191891332a, content=不错的方式，努力学习，刻苦专研，不断总结出来新经验。, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, 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=Thu Apr 20 20:32:27 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189105, encodeId=f690189105d8, content=学习了，谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=82, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://q.qlogo.cn/qqapp/101296147/1A51842815047D40BFDAA8D69AA8E519/100, createdBy=fd7f2029163, createdName=绛珠草小姐, createdTime=Thu Apr 20 17:50:46 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-04-20 虈亣靌

    不错的方式，努力学习，刻苦专研，不断总结出来新经验。

    0

  10. 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topicList=[TopicDto(id=3352, encryptionId=9bea33520d, topicName=BET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9a1a37427546, createdName=ms5439512287675881, createdTime=Mon Nov 13 15:26:00 CST 2017, time=2017-11-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189633, encodeId=d09218963318, content=学习了谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=60, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c0a61971598, createdName=往日如昨, createdTime=Sat Apr 22 14:31:19 CST 2017, time=2017-04-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1603596, encodeId=d6d71603596f3, content=<a href='/topic/show?id=3831e7930d9' target=_blank style='color:#2F92EE;'>#细胞核#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77930, encryptionId=3831e7930d9, topicName=细胞核)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=52c219056124, createdName=ying_wu, createdTime=Fri Apr 21 10:26:00 CST 2017, time=2017-04-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189133, encodeId=a8191891332a, content=不错的方式，努力学习，刻苦专研，不断总结出来新经验。, beContent=null, objectType=article, channel=null, level=null, likeNumber=71, 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=Thu Apr 20 20:32:27 CST 2017, time=2017-04-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=189105, encodeId=f690189105d8, content=学习了，谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=82, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://q.qlogo.cn/qqapp/101296147/1A51842815047D40BFDAA8D69AA8E519/100, createdBy=fd7f2029163, createdName=绛珠草小姐, createdTime=Thu Apr 20 17:50:46 CST 2017, time=2017-04-20, status=1, ipAttribution=)]
    2017-04-20 绛珠草小姐

    学习了，谢谢

    0

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