New Therapeutics in C1INH Deficiency A Review of Recent Studies and Advances英文电子书.pdf

Curr Allergy Asthma Rep (2011) 11:300–308 DOI 10.1007/s11882-011-0203-x New Therapeutics in C1INH Deficiency: A Review of Recent Studies and Advances Neil Parikh Marc A. Riedl Published online: 24 May 2011 # Springer Science+Business Media, LLC 2011 Abstract Hereditary angioedema (HAE) is a genetic causing dysphagia, stridor, and respiratory compromise condition causing a significant burden of illness for affected leading to asphyxiation. HAE type I and type II pathogen- individuals. Episodes of angioedema involving the skin, esis is attributable to deficiency or dysfunction of the serine gastrointestinal tract, as well as the larynx and oropharynx protease known as C1 inhibitor (C1INH). C1INH irrevers- are often unpredictable and cause significant morbidity and ibly binds to several proteases, thereby inhibiting function. mortality. Isolation of the underlying protein deficiency, Relevant to HAE, C1INH has been shown to play a role in specifically the serine protease C1 inhibitor, and further the complement system via interaction with C1r and C1s, as description of its role in multiple physiologic cascades has well as the contact cascade via inhibition of kallikrein. led to the development of several specific therapies for Many studies have demonstrated that insufficient C1INH HAE. This report provides a brief overview of HAE but function leads to dysregulation of these pathways, with the focuses primarily on reviewing recently published clinical kinin system (contact pathway) largely responsible for the studies of therapeutics developed for medical management symptoms of HAE via excess generation of bradykinin that of the condition. causes localized endothelial dysfunction