Current update on cellular and molecular mechanisms of hereditary angioedema

摘要: Abstract Objective To provide an update on the molecular mechanisms of hereditary angioedema (HAE). Data Sources MEDLINE and PubMed databases were searched to identify pertinent articles using following key terms: , C1 inhibitor bradykinin contact system factor XII mechanism pathophysiology severity permeability estrogen . Study Selections Articles selected based their relevance subject matter. Results Although biochemical basis "classic" HAE is known result from esterase (C1INH) deficiency, a new form, with normal C1INH, has been identified. types I II are caused by mutations in SERPING1 gene that decreased plasma levels functional C1INH. In F12 have identified subset individuals, but genetic defect remains unknown most patients. The primary mediator swelling bradykinin, product increases vascular permeability. disease highly variable may be influenced polymorphisms other genes factors, such as hormones, trauma, stress, infection. Conclusion Hereditary heterogeneous disorder complex pathophysiology. Implicated include FXII patients C1INH deficiency levels, respectively. Disease variable.