• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

一例罕见的遗传性血管性水肿，仅有胃肠道症状，无皮肤受累。

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

作者信息

Wu Xuan, Yin Tengfei, Yu Yanbo

机构信息

Department of Gastroenterology, Qilu Hospital of Shandong University, Jinan, Shandong, China.

出版信息

Clin J Gastroenterol. 2025 Aug;18(4):615-618. doi: 10.1007/s12328-025-02147-6. Epub 2025 May 16.

DOI:10.1007/s12328-025-02147-6
PMID:40377882
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.

摘要

我们报告一例仅表现为胃肠道症状（包括腹痛和腹胀）的遗传性血管性水肿病例。该患者经历了4年的反复腹痛，无任何明显的临床特征，如皮肤或黏膜水肿。几乎每一次发作都发生在月经结束后10多天。最终，通过全外显子组测序和相关指标评估确诊。

相似文献

1
A rare case of hereditary angioedema with exclusive gastrointestinal symptoms and no cutaneous involvement.一例罕见的遗传性血管性水肿，仅有胃肠道症状，无皮肤受累。
Clin J Gastroenterol. 2025 Aug;18(4):615-618. doi: 10.1007/s12328-025-02147-6. Epub 2025 May 16.
2
[Administration of conestat alfa, human C1 esterase inhibitor and icatibant in the treatment of acute angioedema attacks in adults with hereditary angioedema due to C1 esterase inhibitor deficiency. Treatment comparison based on systematic review results].[注射用重组人C1酯酶抑制剂（conestat alfa）、人C1酯酶抑制剂和依卡替班治疗C1酯酶抑制剂缺乏所致遗传性血管性水肿成年患者急性血管性水肿发作的疗效比较。基于系统评价结果的治疗比较]
Pneumonol Alergol Pol. 2013;81(2):95-104.
3
Interventions for the long-term prevention of hereditary angioedema attacks.遗传性血管性水肿长期预防干预措施。
Cochrane Database Syst Rev. 2022 Nov 3;11(11):CD013403. doi: 10.1002/14651858.CD013403.pub2.
4
Hereditary angioedema in a paediatric patient presenting with abdominal pain and duodenal dilation.
BMJ Case Rep. 2025 Jul 5;18(7):e263989. doi: 10.1136/bcr-2024-263989.
5
Initial presentation of hereditary angioedema as abdominal pain and ascites in puerperium: case report.遗传性血管性水肿在产褥期以腹痛和腹水为首发表现：病例报告
Acta Dermatovenerol Croat. 2010;18(4):261-3.
6
[Two pediatric hereditary angioedemathe families: case report and literature review].[两个小儿遗传性血管性水肿家族：病例报告及文献复习]
Zhonghua Er Ke Za Zhi. 2024 Sep 2;62(9):883-887. doi: 10.3760/cma.j.cn112140-20240227-00125.
7
Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records.罕见病的主动识别：利用电子病历进行遗传性血管性水肿诊断的经验教训。
Orphanet J Rare Dis. 2025 Jul 28;20(1):386. doi: 10.1186/s13023-025-03882-2.
8
Hereditary angioedema-induced laryngeal edema: A diagnostic and therapeutic race against time.
Am J Emerg Med. 2025 Jul;93:238.e5-238.e8. doi: 10.1016/j.ajem.2025.04.059. Epub 2025 Apr 26.
9
Recurrent abdominal pain as the only clinical manifestation of hereditary angioedema type II.以反复腹痛为唯一临床表现的遗传性血管性水肿 II 型。
Rev Esp Enferm Dig. 2023 Jul;115(7):392-393. doi: 10.17235/reed.2022.9119/2022.
10
Disease control and disease activity in hereditary angioedema: two sides of the same coin?遗传性血管性水肿中的疾病控制与疾病活动：同一枚硬币的两面？
Front Immunol. 2025 Jul 22;16:1631448. doi: 10.3389/fimmu.2025.1631448. eCollection 2025.

本文引用的文献

1
An Overview of Hereditary Angioedema for the Primary Care Physician.基层医疗医生的遗传性血管性水肿概述
Med Clin North Am. 2024 Jul;108(4):747-755. doi: 10.1016/j.mcna.2023.08.005.
2
Abdominal and pelvic imaging in the diagnosis of acute abdominal attacks in patients with hereditary angioedema due to C1-inhibitor deficiency.腹部和盆腔成像在诊断C1抑制剂缺乏所致遗传性血管性水肿患者急性腹痛发作中的应用
Postepy Dermatol Alergol. 2022 Aug;39(4):749-756. doi: 10.5114/ada.2021.108438. Epub 2021 Aug 13.
3
Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema.
复发性急腹症作为遗传性血管性水肿的主要表现
Intern Med. 2019 Jan 15;58(2):213-216. doi: 10.2169/internalmedicine.1559-18. Epub 2018 Aug 24.
4
Abdominal attacks and treatment in hereditary angioedema with C1-inhibitor deficiency.C1 抑制剂缺乏的遗传性血管性水肿的腹部发作及治疗
BMC Gastroenterol. 2014 Apr 9;14:71. doi: 10.1186/1471-230X-14-71.
5
Initial presentation of hereditary angioedema as abdominal pain and ascites in puerperium: case report.遗传性血管性水肿在产褥期以腹痛和腹水为首发表现：病例报告
Acta Dermatovenerol Croat. 2010;18(4):261-3.
6
Delayed diagnosis of hereditary angioedema.遗传性血管性水肿的延迟诊断。
Am J Med Sci. 2010 Jul;340(1):82-3. doi: 10.1097/MAJ.0b013e3181dead3b.
7
Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency.C1抑制剂缺乏所致遗传性血管性水肿腹部发作的症状、病程及并发症
Am J Gastroenterol. 2006 Mar;101(3):619-27. doi: 10.1111/j.1572-0241.2006.00492.x. Epub 2006 Feb 8.
8
[Abdominal pain and ascites as manifestations of hereditary angioneurotic edema].
Gastroenterol Hepatol. 1998 May;21(5):230-2.
9
Hereditary angioedema: an infrequent cause of abdominal pain with ascites.遗传性血管性水肿：腹痛伴腹水的罕见病因。
Am J Gastroenterol. 1995 Mar;90(3):471-4.
10
Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members.复发性腹痛作为多个家庭成员遗传性血管性水肿的唯一表现。
Gastroenterology. 1987 Nov;93(5):1116-8. doi: 10.1016/0016-5085(87)90576-2.