Lancet:第四、五手指短,没有掌指关节,疾病英文名长达30个字母,啥病?——案例报道

2016-10-14 MedSci MedSci原创

患者男,37岁,2013年3月因发热4周、左下颌疼痛6周就诊。 31岁时进行了二叶主动脉瓣替换的手术。 查体:身材矮小(155厘米),第四和第五根手指很短,并且没有第四或第五掌指关节。如下图所示。 根据小编的实习经验,一般这种发育异常的人,都要警惕遗传方面的问题。 手部X光:双手第一和第三远端趾骨缩短、第四、第五掌骨两侧异常,均呈对称性。如下图所示。 胸片无异

患者男,37岁,2013年3月因发热4周、左下颌疼痛6周就诊。

31岁时进行了二叶主动脉瓣替换的手术。

查体:身材矮小(155厘米),第四和第五根手指很短,并且没有第四或第五掌指关节。如下图所示。





根据小编的实习经验,一般这种发育异常的人,都要警惕遗传方面的问题。

手部X光:双手第一和第三远端趾骨缩短、第四、第五掌骨两侧异常,均呈对称性。如下图所示。



胸片无异位钙化,血清钙、磷正常,甲状旁腺激素水平正常。

患者诊断为:假-假性甲状旁腺功能减退

附赠给大家这个疾病的英文名称——Pseudopseudohypoparathyroidism,小编数了下,30个字母。


假-假性甲状旁腺功能减退实际上是Albright遗传性骨营养不良的不完全型,遗传性疾病诊断的金标准肯定是基因检测,但是本案例患者选择了拒绝!不过追溯患者的家人信息,他说他爸爸也是身材矮小,不过没有类似的手指畸形。

这个疾病不需要治疗。至于患者的发热,是因为存在口腔脓肿,出院回家口服抗生素就可以了。

Albright遗传性骨营养不良在1942年由Albright首次报道,是一种具有甲状旁腺功能减退症的症状和体征的遗传性疾病。

假-假性甲状旁腺功能减的临床表现与假性甲状旁腺功能减退相似,亦有体态异常,但无抽搐。实验室检查,血钙和磷均正常,血清PTH正常,注射PTH试验反应正常。这些实验室检查结果,均与Albright遗传性骨营养不良不同。

原始出处:

Catherine Simpson,et al.Pseudopseudohypoparathyroidism.Lancet.September 2016

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    2016-12-21 howi
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    2016-10-20 thlabcde

    有意思!学习了!

    0

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    2016-10-16 花开冉末i

    受教了!

    0

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    2016-10-16 忠诚向上

    继续努力

    0

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    2016-10-15 flysky120

    谢谢,学习很有帮助

    0

  7. [GetPortalCommentsPageByObjectIdResponse(id=1975713, encodeId=388e19e5713c4, content=<a href='/topic/show?id=187f56605ae' target=_blank style='color:#2F92EE;'>#掌指关节#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56605, encryptionId=187f56605ae, topicName=掌指关节)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ea6321, createdName=okhuali, createdTime=Sun May 14 00:56:00 CST 2017, time=2017-05-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1828648, encodeId=c81c1828648a4, content=<a href='/topic/show?id=1b6210686b2' target=_blank style='color:#2F92EE;'>#Lancet#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10686, encryptionId=1b6210686b2, topicName=Lancet)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3f0227, createdName=howi, createdTime=Wed Dec 21 07:56:00 CST 2016, time=2016-12-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=149948, encodeId=038214994893, content=有意思!学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=1, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=92191944782, createdName=thlabcde, createdTime=Thu Oct 20 14:33:19 CST 2016, time=2016-10-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148739, encodeId=8e2d148e3985, content=受教了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3yVFeItvYLMR38WUsYtaRuSmqy9gDOnkr3D0usJ7SGXfFld6yx6ZXOfzic752zRyIoKaSmMyeZUel53m97J6WtlI/0, createdBy=e4191953752, createdName=花开冉末i, createdTime=Sun Oct 16 07:19:31 CST 2016, time=2016-10-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148732, encodeId=600a148e321a, content=继续努力, beContent=null, objectType=article, channel=null, level=null, likeNumber=52, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=45101626056, createdName=忠诚向上, createdTime=Sun Oct 16 07:11:38 CST 2016, time=2016-10-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148504, encodeId=4ccc14850493, content=谢谢,学习很有帮助, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160718/IMG578C993D395567540.jpg, createdBy=59b81918946, createdName=flysky120, createdTime=Sat Oct 15 09:29:56 CST 2016, time=2016-10-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148499, encodeId=bb3b1484998f, content=谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=cb571956164, createdName=187清风, createdTime=Sat Oct 15 09:17:53 CST 2016, time=2016-10-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148471, encodeId=6e181484e1eb, content=很受益,学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=23, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib06iaV3D9Tg5K3j7ibEWPiarwpqibEYqqX9yVibV5uebib0O7hQSOPmqGrb5FfyDbLsLawnz7ShAb5ibtiayWgI5ClMTh5v/0, createdBy=a47c1614293, createdName=童小孩, createdTime=Sat Oct 15 07:37:36 CST 2016, time=2016-10-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148447, encodeId=bd5e14844e82, content=学习了啊, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=5e291719269, createdName=大旺旺, createdTime=Sat Oct 15 07:11:43 CST 2016, time=2016-10-15, status=1, ipAttribution=)]
    2016-10-15 187清风

    谢谢分享。

    0

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    2016-10-15 童小孩

    很受益,学习了

    0

  9. [GetPortalCommentsPageByObjectIdResponse(id=1975713, encodeId=388e19e5713c4, content=<a href='/topic/show?id=187f56605ae' target=_blank style='color:#2F92EE;'>#掌指关节#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56605, encryptionId=187f56605ae, topicName=掌指关节)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ea6321, createdName=okhuali, createdTime=Sun May 14 00:56:00 CST 2017, time=2017-05-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1828648, encodeId=c81c1828648a4, content=<a href='/topic/show?id=1b6210686b2' target=_blank style='color:#2F92EE;'>#Lancet#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10686, encryptionId=1b6210686b2, topicName=Lancet)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3f0227, createdName=howi, createdTime=Wed Dec 21 07:56:00 CST 2016, time=2016-12-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=149948, encodeId=038214994893, content=有意思!学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=1, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=92191944782, createdName=thlabcde, createdTime=Thu Oct 20 14:33:19 CST 2016, time=2016-10-20, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148739, encodeId=8e2d148e3985, content=受教了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3yVFeItvYLMR38WUsYtaRuSmqy9gDOnkr3D0usJ7SGXfFld6yx6ZXOfzic752zRyIoKaSmMyeZUel53m97J6WtlI/0, createdBy=e4191953752, createdName=花开冉末i, createdTime=Sun Oct 16 07:19:31 CST 2016, time=2016-10-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148732, encodeId=600a148e321a, content=继续努力, beContent=null, objectType=article, channel=null, level=null, likeNumber=52, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=45101626056, createdName=忠诚向上, createdTime=Sun Oct 16 07:11:38 CST 2016, time=2016-10-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148504, encodeId=4ccc14850493, content=谢谢,学习很有帮助, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160718/IMG578C993D395567540.jpg, createdBy=59b81918946, createdName=flysky120, createdTime=Sat Oct 15 09:29:56 CST 2016, time=2016-10-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148499, encodeId=bb3b1484998f, content=谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=cb571956164, createdName=187清风, createdTime=Sat Oct 15 09:17:53 CST 2016, time=2016-10-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148471, encodeId=6e181484e1eb, content=很受益,学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=23, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib06iaV3D9Tg5K3j7ibEWPiarwpqibEYqqX9yVibV5uebib0O7hQSOPmqGrb5FfyDbLsLawnz7ShAb5ibtiayWgI5ClMTh5v/0, createdBy=a47c1614293, createdName=童小孩, createdTime=Sat Oct 15 07:37:36 CST 2016, time=2016-10-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=148447, encodeId=bd5e14844e82, content=学习了啊, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=5e291719269, createdName=大旺旺, createdTime=Sat Oct 15 07:11:43 CST 2016, time=2016-10-15, status=1, ipAttribution=)]
    2016-10-15 大旺旺

    学习了啊

    0

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