罕见的遗传性血管性水肿病例，仅伴有胃肠道症状，无皮肤受累。

IF 0.8 Q4 GASTROENTEROLOGY & HEPATOLOGY

Clinical Journal of Gastroenterology Pub Date : 2025-05-16 DOI:10.1007/s12328-025-02147-6

Xuan Wu, Tengfei Yin, Yanbo Yu

{"title":"罕见的遗传性血管性水肿病例，仅伴有胃肠道症状，无皮肤受累。","authors":"Xuan Wu, Tengfei Yin, Yanbo Yu","doi":"10.1007/s12328-025-02147-6","DOIUrl":null,"url":null,"abstract":"We report a case of hereditary angioedema presenting solely with gastrointestinal symptoms, including abdominal pain and bloating. The patient experienced recurrent abdominal pain for 4 years, without any evident clinical features such as skin or mucosal edema. Almost every episode occurred more than 10 days after the conclusion of menstruation. Ultimately, the diagnosis was confirmed through whole-exome sequencing and the evaluation of relevant indicators.","PeriodicalId":10364,"journal":{"name":"Clinical Journal of Gastroenterology","volume":" ","pages":""},"PeriodicalIF":0.8000,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A rare case of hereditary angioedema with exclusive gastrointestinal symptoms and no cutaneous involvement.\",\"authors\":\"Xuan Wu, Tengfei Yin, Yanbo Yu\",\"doi\":\"10.1007/s12328-025-02147-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We report a case of hereditary angioedema presenting solely with gastrointestinal symptoms, including abdominal pain and bloating. The patient experienced recurrent abdominal pain for 4 years, without any evident clinical features such as skin or mucosal edema. Almost every episode occurred more than 10 days after the conclusion of menstruation. Ultimately, the diagnosis was confirmed through whole-exome sequencing and the evaluation of relevant indicators.\",\"PeriodicalId\":10364,\"journal\":{\"name\":\"Clinical Journal of Gastroenterology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2025-05-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Journal of Gastroenterology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s12328-025-02147-6\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Journal of Gastroenterology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12328-025-02147-6","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

我们报告一例遗传性血管性水肿仅表现为胃肠道症状，包括腹痛和腹胀。患者反复腹痛4年，无明显的皮肤、粘膜水肿等临床表现。几乎每次发作都发生在月经结束后10天以上。最终通过全外显子组测序及相关指标评价确诊。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A rare case of hereditary angioedema with exclusive gastrointestinal symptoms and no cutaneous involvement.

We report a case of hereditary angioedema presenting solely with gastrointestinal symptoms, including abdominal pain and bloating. The patient experienced recurrent abdominal pain for 4 years, without any evident clinical features such as skin or mucosal edema. Almost every episode occurred more than 10 days after the conclusion of menstruation. Ultimately, the diagnosis was confirmed through whole-exome sequencing and the evaluation of relevant indicators.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Clinical Journal of Gastroenterology GASTROENTEROLOGY & HEPATOLOGY-

CiteScore

2.00

自引率

0.00%

发文量

182

期刊介绍： The journal publishes Case Reports and Clinical Reviews on all aspects of the digestive tract, liver, biliary tract, and pancreas. Critical Case Reports that show originality or have educational implications for diagnosis and treatment are especially encouraged for submission. Personal reviews of clinical gastroenterology are also welcomed. The journal aims for quick publication of such critical Case Reports and Clinical Reviews.