以反复腹痛为主要表现的遗传性血管性水肿1例并文献复习  

Hereditary angioedema with recurrent abdominal pain:a case report and literature review

作　　者：王畅畅 李巍 董翔 高亚东[1,2] WANG Changchang;LI Wei;DONG Xiang;GAO Yadong(Department of Allergology,Zhongnan Hospital of Wuhan University,Wuhan 430071,China;Department of Allergy,The First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310003,China)

机构地区：[1]武汉大学中南医院过敏反应科,武汉430071 [2]浙江大学医学院附属第一医院变态反应(过敏)科,杭州310003

出　　处：《数理医药学杂志》2024年第4期313-317,共5页Journal of Mathematical Medicine

摘　　要：遗传性血管性水肿(hereditary angioedema,HAE)是一种罕见的常染色体显性遗传病,以上呼吸道、消化道及皮肤粘膜水肿为特征,其主要发病机制为C1酯酶抑制物(complement 1 esterase inhibitor,C1-INH)浓度和(或)功能下降。当水肿累及消化道黏膜时常表现为腹痛,与外科急腹症较难鉴别,常被误诊误治。本文报道了一例以反复腹痛为主要表现的HAE患者,病情隐匿,诊断过程复杂,最终通过检测C1-INH功能及浓度得以确诊,并在给予拉那利尤单抗预防性治疗后达到满意的临床效果。Hereditary angioedema(HAE)is a rare autosomal dominant condition characterized by episodes of swollen of the upper airway,intestines,and skin.The primary pathogenesis is the reduction in the function and/or plasma concentration of complement 1 esterase inhibitor(C1-INH).When edema involves the gastrointestinal tract,abdominal pain will be the main manifestation,which is often difficult to differentiate from surgical acute abdomen and may lead to misdiagnose and mistreatment.This paper reported a case of HAE with recurrent abdominal pain as the main manifestation,which diagnostic course was rugged and complicated.Eventually,the diagnosis was confirmed by testing the function and concentration of C1-INH,and a satisfactory clinical outcome was achieved after prophylactic treatment with Lanndelumab.

关 键 词：遗传性血管性水肿 腹痛 C1酯酶抑制物 

分 类 号：R596.1[医药卫生—内科学]