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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

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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.

Hereditary angioedemaAbdominal painComplement 1 esterase inhibitor

王畅畅、李巍、董翔、高亚东

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武汉大学中南医院过敏反应科(武汉 430071)

浙江大学医学院附属第一医院变态反应(过敏)科(杭州 310003)

遗传性血管性水肿 腹痛 C1酯酶抑制物

2024

数理医药学杂志
武汉大学,中国工业与应用数学学会,医药数学专业委员会

数理医药学杂志

影响因子:0.479
ISSN:1004-4337
年,卷(期):2024.37(4)
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