title: Defective complement inhibitory function predisposes to renal disease.
abstract: The role of the complement system in mediating human renal disease has long been recognized in immune-complex excess syndromes such as systemic lupus erythematosus and in dense deposit disease in which no immunoglobulin (Ig) is present. Over the past 15 years, mutations in complement regulatory genes have been demonstrated to predispose to thrombotic microangiopathies including atypical hemolytic uremic syndrome, C3 and C1q glomerulopathies, and preeclampsia. Excessive complement activation on an endothelial cell, due to either an autoantibody or a regulatory protein deficiency, sets up a procoagulant state in these diseases as well as in the antiphospholipid syndrome. Knowledge of the genes involved and the functional consequences of alterations in their structure has led to therapy that blocks complement activation.
authors.affiliation: Department of Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA. AJAVA@dom.wustl.edu
authors.forename: Anuja
authors.initials: A
authors.lastname: Java
authors.forename: John
authors.initials: J
authors.lastname: Atkinson
authors.forename: Jane
authors.initials: J
authors.lastname: Salmon
mesh_terms: D003167:Complement Activation / Q000235:genetics*; D003165:Complement System Proteins / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000378:metabolism
chemical_list: D003165:Complement System Proteins; D004247:DNA