{"title":"Advances in the Pathogenesis of Hereditary Angioedema.","authors":"Xiang-Yi Cui, Yu-Xiang Zhi","doi":"10.3881/j.issn.1000-503X.15915","DOIUrl":null,"url":null,"abstract":"<p><p>Hereditary angioedema (HAE) is a rare,unpredictable,autosomal dominant disorder characterized by recurrent swelling in subcutaneous and submucosal tissue.In recent years,the pathophysiology and pathogenesis of HAE have been continuously studied and elucidated.In addition to the genes encoding complement 1 esterase inhibitors,new pathogenic variants have been identified in the genes encoding coagulation factor Ⅻ,plasminogen,angiopoietin-1,kininogen,heparan sulfate 3-O-sulfotransferase 6,and myoferlin in HAE.Moreover,different pathogenic variants have different mechanisms in causing HAE.In addition,the pathogenic genes of some patients remain unknown.This review summarizes the recent progress in the classification,epidemiology,pathophysiology,and pathogenesis of HAE,aiming to provide ideas for further fundamental research,clinical diagnosis,and drug development of HAE.</p>","PeriodicalId":6919,"journal":{"name":"中国医学科学院学报","volume":"46 6","pages":"924-931"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国医学科学院学报","FirstCategoryId":"1087","ListUrlMain":"https://doi.org/10.3881/j.issn.1000-503X.15915","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Hereditary angioedema (HAE) is a rare,unpredictable,autosomal dominant disorder characterized by recurrent swelling in subcutaneous and submucosal tissue.In recent years,the pathophysiology and pathogenesis of HAE have been continuously studied and elucidated.In addition to the genes encoding complement 1 esterase inhibitors,new pathogenic variants have been identified in the genes encoding coagulation factor Ⅻ,plasminogen,angiopoietin-1,kininogen,heparan sulfate 3-O-sulfotransferase 6,and myoferlin in HAE.Moreover,different pathogenic variants have different mechanisms in causing HAE.In addition,the pathogenic genes of some patients remain unknown.This review summarizes the recent progress in the classification,epidemiology,pathophysiology,and pathogenesis of HAE,aiming to provide ideas for further fundamental research,clinical diagnosis,and drug development of HAE.
遗传性血管性水肿（HAE）是一种罕见的、不可预测的常染色体显性遗传病，其特征是皮下和粘膜下组织反复肿胀。近年来，HAE的病理生理和发病机制不断被研究和阐明。除了编码补体1酯酶抑制剂的基因外，在HAE中还发现了新的致病变异，包括编码凝血因子Ⅻ、纤溶酶原、血管生成素-1、激肽原、硫酸肝素3- o -硫转移酶6和肌钙素的基因。此外，不同的致病变异在引起HAE时有不同的机制。此外，一些患者的致病基因仍然未知。本文综述了近年来在HAE的分类、流行病学、病理生理、发病机制等方面的研究进展，旨在为进一步开展HAE的基础研究、临床诊断和药物开发提供思路。
期刊介绍：
Acta Academiae Medicinae Sinicae was founded in February 1979. It is a comprehensive medical academic journal published in China and abroad, supervised by the Ministry of Health of the People's Republic of China and sponsored by the Chinese Academy of Medical Sciences and Peking Union Medical College.
The journal mainly reports the latest research results, work progress and dynamics in the fields of basic medicine, clinical medicine, pharmacy, preventive medicine, biomedicine, medical teaching and research, aiming to promote the exchange of medical information and improve the academic level of medicine. At present, the journal has been included in 10 famous foreign retrieval systems and their databases [Medline (PubMed online version), Elsevier, EMBASE, CA, WPRIM, ExtraMED, IC, JST, UPD and EBSCO-ASP]; and has been included in important domestic retrieval systems and databases [China Science Citation Database (Documentation and Information Center of the Chinese Academy of Sciences), China Core Journals Overview (Peking University Library), China Science and Technology Paper Statistical Source Database (China Science and Technology Core Journals) (China Institute of Scientific and Technological Information), China Science and Technology Journal Paper and Citation Database (China Institute of Scientific and Technological Information)].
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