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BMJ：罕见病例——指甲-髌骨综合征的病例报道

2016-04-29 sunshine 译 MedSci原创

指甲髌骨综合征甲白半月痕青光眼
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BMJ：罕见病例——指甲-髌骨综合征的病例报道女性患者，12岁，出现慢性指甲营养不良及三角弧形的甲白半月痕，这些病症是指甲髌骨综合症（NPS）的表现，它是一种常染色体显性遗传病（发病率为1/50000）。NPS的骨骼表现可包括髌骨和髂骨角的发育不良或缺如。NPS患者青光眼的发生风险较高，且可出现进行性肾功能损伤。经检查发现患者眼压升高，且已出现了蛋白尿（蛋白/肌酐比为 0.23 g/mmol；参考

女性患者，12岁，出现慢性指甲营养不良及三角弧形的甲白半月痕，这些病症是指甲髌骨综合征(nail-patella syndrome,NPS）的表现，它是一种常染色体显性遗传病（发病率为1/50000）。



NPS的骨骼表现可包括髌骨和髂骨角的发育不良或缺如。NPS患者青光眼的发生风险较高，且可出现进行性肾功能损伤。

经检查发现患者眼压升高，且已出现了蛋白尿（蛋白/肌酐比为 0.23 g/mmol；参考值 <0.02）。LMX1B基因测序发现一个新的突变，c.949C>T（p.Gln317*）。

患者的5位亲属出现了三角弧形的甲白半月痕，并接受了肾功能评估和眼科检查。

持续的指甲营养不良，尤其是三角弧形的甲白半月痕的表现，提示患有NPS；对于NPS患者，必须进行眼科和肾功能检查。

原始出处：

Natasha J Brown, Joshua Kausman, Zornitza Stark. Triangular lunulae in nail-patella syndrome. BMJ 2016; 353 doi: http://dx.doi.org/10.1136/bmj.i1371 (Published 28 April 2016)Cite this as: BMJ 2016;353:i1371

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    2016-11-11 ycmayy

    #指甲#

    0

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    2016-06-30 gaoxiaoe

    #BMJ#

    0

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    2017-02-23 cqlidoudou

    #罕见病例#

    0

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    2016-06-21 1defde3am26(暂无匿称)

    学到老啊

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=1678394, encodeId=15af16e839475, content=<a href='/topic/show?id=a6f85642ebd' target=_blank style='color:#2F92EE;'>#指甲#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56427, encryptionId=a6f85642ebd, topicName=指甲)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3ee927698160, createdName=ycmayy, createdTime=Fri Nov 11 06:03:00 CST 2016, time=2016-11-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1847970, encodeId=077f184e97064, content=<a href='/topic/show?id=2977356edc' target=_blank style='color:#2F92EE;'>#BMJ#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3567, encryptionId=2977356edc, topicName=BMJ)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=148754, createdName=gaoxiaoe, createdTime=Thu Jun 30 02:03:00 CST 2016, time=2016-06-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2034175, encodeId=fb4520341e59c, content=<a href='/topic/show?id=97b5e95599f' target=_blank style='color:#2F92EE;'>#罕见病例#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79559, encryptionId=97b5e95599f, topicName=罕见病例)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=845e216, createdName=cqlidoudou, createdTime=Thu Feb 23 16:03:00 CST 2017, time=2017-02-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=90730, encodeId=795590e3034, content=学到老啊, beContent=null, objectType=article, channel=null, level=null, likeNumber=171, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=/v1.0.0/img/user_icon.png, createdBy=dc0f1736772, createdName=1defde3am26(暂无匿称), createdTime=Tue Jun 21 21:55:00 CST 2016, time=2016-06-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1363566, encodeId=ed46136356668, content=<a href='/topic/show?id=d23f10209183' target=_blank style='color:#2F92EE;'>#髌骨#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102091, encryptionId=d23f10209183, topicName=髌骨)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=dab8203, createdName=zsyan, createdTime=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430610, encodeId=9e7214306103e, 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=37, 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=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467126, encodeId=d36d146e12693, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, 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=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=83380, encodeId=5f448338073, content=我的指甲也不好。, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160313/IMG56E50DEC424F44672.jpg, createdBy=ce5b1699635, createdName=Lisa971, createdTime=Sat Apr 30 09:32:00 CST 2016, time=2016-04-30, status=1, ipAttribution=)]
    2016-05-01 zsyan

    #髌骨#

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1678394, encodeId=15af16e839475, content=<a href='/topic/show?id=a6f85642ebd' target=_blank style='color:#2F92EE;'>#指甲#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56427, encryptionId=a6f85642ebd, topicName=指甲)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3ee927698160, createdName=ycmayy, createdTime=Fri Nov 11 06:03:00 CST 2016, time=2016-11-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1847970, encodeId=077f184e97064, content=<a href='/topic/show?id=2977356edc' target=_blank style='color:#2F92EE;'>#BMJ#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3567, encryptionId=2977356edc, topicName=BMJ)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=148754, createdName=gaoxiaoe, createdTime=Thu Jun 30 02:03:00 CST 2016, time=2016-06-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2034175, encodeId=fb4520341e59c, content=<a href='/topic/show?id=97b5e95599f' target=_blank style='color:#2F92EE;'>#罕见病例#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79559, encryptionId=97b5e95599f, topicName=罕见病例)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=845e216, createdName=cqlidoudou, createdTime=Thu Feb 23 16:03:00 CST 2017, time=2017-02-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=90730, encodeId=795590e3034, content=学到老啊, beContent=null, objectType=article, channel=null, level=null, likeNumber=171, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=/v1.0.0/img/user_icon.png, createdBy=dc0f1736772, createdName=1defde3am26(暂无匿称), createdTime=Tue Jun 21 21:55:00 CST 2016, time=2016-06-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1363566, encodeId=ed46136356668, content=<a href='/topic/show?id=d23f10209183' target=_blank style='color:#2F92EE;'>#髌骨#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102091, encryptionId=d23f10209183, topicName=髌骨)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=dab8203, createdName=zsyan, createdTime=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430610, encodeId=9e7214306103e, 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=37, 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=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467126, encodeId=d36d146e12693, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, 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=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=83380, encodeId=5f448338073, content=我的指甲也不好。, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160313/IMG56E50DEC424F44672.jpg, createdBy=ce5b1699635, createdName=Lisa971, createdTime=Sat Apr 30 09:32:00 CST 2016, time=2016-04-30, status=1, ipAttribution=)]
    2016-05-01 zhouqu_8

    #综合征#

    0

  7. [GetPortalCommentsPageByObjectIdResponse(id=1678394, encodeId=15af16e839475, content=<a href='/topic/show?id=a6f85642ebd' target=_blank style='color:#2F92EE;'>#指甲#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56427, encryptionId=a6f85642ebd, topicName=指甲)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3ee927698160, createdName=ycmayy, createdTime=Fri Nov 11 06:03:00 CST 2016, time=2016-11-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1847970, encodeId=077f184e97064, content=<a href='/topic/show?id=2977356edc' target=_blank style='color:#2F92EE;'>#BMJ#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3567, encryptionId=2977356edc, topicName=BMJ)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=148754, createdName=gaoxiaoe, createdTime=Thu Jun 30 02:03:00 CST 2016, time=2016-06-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2034175, encodeId=fb4520341e59c, content=<a href='/topic/show?id=97b5e95599f' target=_blank style='color:#2F92EE;'>#罕见病例#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79559, encryptionId=97b5e95599f, topicName=罕见病例)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=845e216, createdName=cqlidoudou, createdTime=Thu Feb 23 16:03:00 CST 2017, time=2017-02-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=90730, encodeId=795590e3034, content=学到老啊, beContent=null, objectType=article, channel=null, level=null, likeNumber=171, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=/v1.0.0/img/user_icon.png, createdBy=dc0f1736772, createdName=1defde3am26(暂无匿称), createdTime=Tue Jun 21 21:55:00 CST 2016, time=2016-06-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1363566, encodeId=ed46136356668, content=<a href='/topic/show?id=d23f10209183' target=_blank style='color:#2F92EE;'>#髌骨#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102091, encryptionId=d23f10209183, topicName=髌骨)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=dab8203, createdName=zsyan, createdTime=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430610, encodeId=9e7214306103e, 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=37, 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=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467126, encodeId=d36d146e12693, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, 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=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=83380, encodeId=5f448338073, content=我的指甲也不好。, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160313/IMG56E50DEC424F44672.jpg, createdBy=ce5b1699635, createdName=Lisa971, createdTime=Sat Apr 30 09:32:00 CST 2016, time=2016-04-30, status=1, ipAttribution=)]
    2016-05-01 syscxl

    #罕见#

    0

  8. [GetPortalCommentsPageByObjectIdResponse(id=1678394, encodeId=15af16e839475, content=<a href='/topic/show?id=a6f85642ebd' target=_blank style='color:#2F92EE;'>#指甲#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56427, encryptionId=a6f85642ebd, topicName=指甲)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3ee927698160, createdName=ycmayy, createdTime=Fri Nov 11 06:03:00 CST 2016, time=2016-11-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1847970, encodeId=077f184e97064, content=<a href='/topic/show?id=2977356edc' target=_blank style='color:#2F92EE;'>#BMJ#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3567, encryptionId=2977356edc, topicName=BMJ)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=148754, createdName=gaoxiaoe, createdTime=Thu Jun 30 02:03:00 CST 2016, time=2016-06-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2034175, encodeId=fb4520341e59c, content=<a href='/topic/show?id=97b5e95599f' target=_blank style='color:#2F92EE;'>#罕见病例#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79559, encryptionId=97b5e95599f, topicName=罕见病例)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=845e216, createdName=cqlidoudou, createdTime=Thu Feb 23 16:03:00 CST 2017, time=2017-02-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=90730, encodeId=795590e3034, content=学到老啊, beContent=null, objectType=article, channel=null, level=null, likeNumber=171, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=/v1.0.0/img/user_icon.png, createdBy=dc0f1736772, createdName=1defde3am26(暂无匿称), createdTime=Tue Jun 21 21:55:00 CST 2016, time=2016-06-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1363566, encodeId=ed46136356668, content=<a href='/topic/show?id=d23f10209183' target=_blank style='color:#2F92EE;'>#髌骨#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102091, encryptionId=d23f10209183, topicName=髌骨)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=dab8203, createdName=zsyan, createdTime=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430610, encodeId=9e7214306103e, 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=37, 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=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1467126, encodeId=d36d146e12693, content=<a href='/topic/show?id=ef32e9539e8' target=_blank style='color:#2F92EE;'>#罕见#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, 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=Sun May 01 03:03:00 CST 2016, time=2016-05-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=83380, encodeId=5f448338073, content=我的指甲也不好。, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160313/IMG56E50DEC424F44672.jpg, createdBy=ce5b1699635, createdName=Lisa971, createdTime=Sat Apr 30 09:32:00 CST 2016, time=2016-04-30, status=1, ipAttribution=)]
    2016-04-30 Lisa971

    我的指甲也不好。

    0