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ADA 2014罕见的永久性新生儿糖尿病(PNDM)——来自21例患者的中国经验

2014-06-15 王娣 医学论坛网

ADA糖尿病新生儿PNDM
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美国糖尿病学会第74届年会(ADA2014)于当地时间6月13~17日在旧金山举行，会议上报道一项来自中国的研究——21例罕见的永久性新生儿糖尿病。永久性新生儿糖尿病(PNDM)罕见，治疗经验缺乏。中国医学科学院北京协和医院肖新华教授研究组收集了21例患者资料，其中10例在6~12月龄间诊断者未检出已知基因突变。在11例6月龄之前诊断的患儿中，通过分子遗传学检测确认了8例的致病性单基因突变[GCK

美国糖尿病学会第74届年会(ADA2014)于当地时间6月13~17日在旧金山举行，会议上报道一项来自中国的研究——21例罕见的永久性新生儿糖尿病。

永久性新生儿糖尿病(PNDM)罕见，治疗经验缺乏。中国医学科学院北京协和医院肖新华教授研究组收集了21例患者资料，其中10例在6~12月龄间诊断者未检出已知基因突变。在11例6月龄之前诊断的患儿中，通过分子遗传学检测确认了8例的致病性单基因突变[GCK1例、INS 2例、ABCC8 1例、KCNJ11 4例，其中2例突变位点(INS，I99_C100insSI;GCK，R191W/N+A379E/N)国际尚无文献报告]，对其中KCNJ11和ABCC8 突变(钾离子通道突变)的5例患者用磺脲类药物代替胰岛素，使用与文献中其他种族相似剂量，取得了更好的疗效，显示了遗传学诊断对临床治疗的指导意义。

李明敏博士(代肖新华教授)在应现场提问时提及，第二代基因测序的结果近日也可揭晓；关于自身抗体阳性的3例患者，其中1例经治疗在3年后复查抗体转阴。

Fonseca教授和翁建平教授（中国专场两位主席）

当Fonseca教授问及中国MODY(青少年的成年发病型糖尿病)发病率时，翁建平教授评论，MODY在法国、英国等欧洲国家较常见，但在我国很少见、散发，目前报告的家系仅有30个左右，中华医学会糖尿病学分会(CDS)在今年2月份牵头一项由全国33家医院参与的“单基因糖尿病全国登记项目”，预计将纳入1000个以上的家系，全面反映中国患病及分布情况。

关于新生儿糖尿病

新生儿糖尿病是一种单基因突变导致的特殊类型糖尿病,通常指出生后6个月内出现高血糖症.随着分子遗传学研究进展,近年来亦有出生6个月后发病的患儿经基因检测被确诊为新生儿糖尿病的报道.根据其病程中有无自发缓解倾向可分为暂时性新生儿糖尿病(transient neonatal diabetes mellitus,TNDM)和永久性新生儿糖尿病(permanent neonatal diabetes mellitus,PNDM).新生儿糖尿病中约45%为TNDM,45%为PNDM,还有10%以临床综合征或胰腺发育不全的形式出现[2].关于新生儿糖尿病的流行病学数据基本来自欧美国家人群,总体患病率约1∶160 000[1].我国1986年报道了第1例新生儿糖尿病,截至2010年,一共有40例新生儿糖尿病的相关报道[3].

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  1. [GetPortalCommentsPageByObjectIdResponse(id=20782, encodeId=ea3020e82b6, content=国真实妊娠糖尿病患病率应该在这两种方案得到的患病率之间, beContent=null, objectType=article, channel=null, level=null, likeNumber=94, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20150920/IMG55FDE671A89482379.jpg, createdBy=cef3108336, createdName=x35042875, createdTime=Sat Apr 11 23:44:00 CST 2015, time=2015-04-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1791432, encodeId=e5421e91432d5, content=<a href='/topic/show?id=86361443197' target=_blank style='color:#2F92EE;'>#PNDM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=14431, encryptionId=86361443197, topicName=PNDM)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Mar 05 13:28:00 CST 2015, time=2015-03-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=10575, encodeId=ce76105e57f, content=对临床有参考价值。感谢。, beContent=null, objectType=article, channel=null, level=null, likeNumber=115, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f061106112, createdName=chen219, createdTime=Tue Jul 22 23:30:00 CST 2014, time=2014-07-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1264501, encodeId=6755126450176, content=<a href='/topic/show?id=150f19229c' target=_blank style='color:#2F92EE;'>#ADA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=1922, encryptionId=150f19229c, topicName=ADA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Tue Jun 17 11:28:00 CST 2014, time=2014-06-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467053, encodeId=6100146e053eb, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79539, encryptionId=ef32e9539e8, topicName=罕见)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=29f36868190, createdName=syscxl, createdTime=Tue Jun 17 11:28:00 CST 2014, time=2014-06-17, status=1, ipAttribution=)]
    2015-04-11 x35042875

    国真实妊娠糖尿病患病率应该在这两种方案得到的患病率之间

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=20782, encodeId=ea3020e82b6, content=国真实妊娠糖尿病患病率应该在这两种方案得到的患病率之间, beContent=null, objectType=article, channel=null, level=null, likeNumber=94, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20150920/IMG55FDE671A89482379.jpg, createdBy=cef3108336, createdName=x35042875, createdTime=Sat Apr 11 23:44:00 CST 2015, time=2015-04-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1791432, encodeId=e5421e91432d5, content=<a href='/topic/show?id=86361443197' target=_blank style='color:#2F92EE;'>#PNDM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=14431, encryptionId=86361443197, topicName=PNDM)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Mar 05 13:28:00 CST 2015, time=2015-03-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=10575, encodeId=ce76105e57f, content=对临床有参考价值。感谢。, beContent=null, objectType=article, channel=null, level=null, likeNumber=115, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f061106112, createdName=chen219, createdTime=Tue Jul 22 23:30:00 CST 2014, time=2014-07-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1264501, encodeId=6755126450176, content=<a href='/topic/show?id=150f19229c' target=_blank style='color:#2F92EE;'>#ADA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=1922, encryptionId=150f19229c, topicName=ADA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Tue Jun 17 11:28:00 CST 2014, time=2014-06-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467053, encodeId=6100146e053eb, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79539, encryptionId=ef32e9539e8, topicName=罕见)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=29f36868190, createdName=syscxl, createdTime=Tue Jun 17 11:28:00 CST 2014, time=2014-06-17, status=1, ipAttribution=)]
    2015-03-05 zhouqu_8

    #PNDM#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=20782, encodeId=ea3020e82b6, content=国真实妊娠糖尿病患病率应该在这两种方案得到的患病率之间, beContent=null, objectType=article, channel=null, level=null, likeNumber=94, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20150920/IMG55FDE671A89482379.jpg, createdBy=cef3108336, createdName=x35042875, createdTime=Sat Apr 11 23:44:00 CST 2015, time=2015-04-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1791432, encodeId=e5421e91432d5, content=<a href='/topic/show?id=86361443197' target=_blank style='color:#2F92EE;'>#PNDM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=14431, encryptionId=86361443197, topicName=PNDM)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Mar 05 13:28:00 CST 2015, time=2015-03-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=10575, encodeId=ce76105e57f, content=对临床有参考价值。感谢。, beContent=null, objectType=article, channel=null, level=null, likeNumber=115, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f061106112, createdName=chen219, createdTime=Tue Jul 22 23:30:00 CST 2014, time=2014-07-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1264501, encodeId=6755126450176, content=<a href='/topic/show?id=150f19229c' target=_blank style='color:#2F92EE;'>#ADA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=1922, encryptionId=150f19229c, topicName=ADA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Tue Jun 17 11:28:00 CST 2014, time=2014-06-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467053, encodeId=6100146e053eb, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79539, encryptionId=ef32e9539e8, topicName=罕见)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=29f36868190, createdName=syscxl, createdTime=Tue Jun 17 11:28:00 CST 2014, time=2014-06-17, status=1, ipAttribution=)]
    2014-07-22 chen219

    对临床有参考价值。感谢。

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=20782, encodeId=ea3020e82b6, content=国真实妊娠糖尿病患病率应该在这两种方案得到的患病率之间, beContent=null, objectType=article, channel=null, level=null, likeNumber=94, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20150920/IMG55FDE671A89482379.jpg, createdBy=cef3108336, createdName=x35042875, createdTime=Sat Apr 11 23:44:00 CST 2015, time=2015-04-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1791432, encodeId=e5421e91432d5, content=<a href='/topic/show?id=86361443197' target=_blank style='color:#2F92EE;'>#PNDM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=14431, encryptionId=86361443197, topicName=PNDM)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Mar 05 13:28:00 CST 2015, time=2015-03-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=10575, encodeId=ce76105e57f, content=对临床有参考价值。感谢。, beContent=null, objectType=article, channel=null, level=null, likeNumber=115, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f061106112, createdName=chen219, createdTime=Tue Jul 22 23:30:00 CST 2014, time=2014-07-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1264501, encodeId=6755126450176, content=<a href='/topic/show?id=150f19229c' target=_blank style='color:#2F92EE;'>#ADA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=1922, encryptionId=150f19229c, topicName=ADA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Tue Jun 17 11:28:00 CST 2014, time=2014-06-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467053, encodeId=6100146e053eb, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79539, encryptionId=ef32e9539e8, topicName=罕见)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=29f36868190, createdName=syscxl, createdTime=Tue Jun 17 11:28:00 CST 2014, time=2014-06-17, status=1, ipAttribution=)]
    2014-06-17 般若傻瓜

    #ADA#

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=20782, encodeId=ea3020e82b6, content=国真实妊娠糖尿病患病率应该在这两种方案得到的患病率之间, beContent=null, objectType=article, channel=null, level=null, likeNumber=94, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20150920/IMG55FDE671A89482379.jpg, createdBy=cef3108336, createdName=x35042875, createdTime=Sat Apr 11 23:44:00 CST 2015, time=2015-04-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1791432, encodeId=e5421e91432d5, content=<a href='/topic/show?id=86361443197' target=_blank style='color:#2F92EE;'>#PNDM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=14431, encryptionId=86361443197, topicName=PNDM)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Thu Mar 05 13:28:00 CST 2015, time=2015-03-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=10575, encodeId=ce76105e57f, content=对临床有参考价值。感谢。, beContent=null, objectType=article, channel=null, level=null, likeNumber=115, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f061106112, createdName=chen219, createdTime=Tue Jul 22 23:30:00 CST 2014, time=2014-07-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1264501, encodeId=6755126450176, content=<a href='/topic/show?id=150f19229c' target=_blank style='color:#2F92EE;'>#ADA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=1922, encryptionId=150f19229c, topicName=ADA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Tue Jun 17 11:28:00 CST 2014, time=2014-06-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467053, encodeId=6100146e053eb, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79539, encryptionId=ef32e9539e8, topicName=罕见)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=29f36868190, createdName=syscxl, createdTime=Tue Jun 17 11:28:00 CST 2014, time=2014-06-17, status=1, ipAttribution=)]
    2014-06-17 syscxl

    #罕见#

    0

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