TY - JOUR
T1 - Defective complement inhibitory function predisposes to renal disease
AU - Java, Anuja
AU - Atkinson, John
AU - Salmon, Jane
PY - 2013/1/14
Y1 - 2013/1/14
N2 - 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.
AB - 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.
KW - C3 and C1q glomerulopathy
KW - aHUS
KW - antiphospholipid syndrome
KW - complement inhibitors
KW - preeclampsia
UR - http://www.scopus.com/inward/record.url?scp=84873051293&partnerID=8YFLogxK
U2 - 10.1146/annurev-med-072211-110606
DO - 10.1146/annurev-med-072211-110606
M3 - Review article
C2 - 23121180
AN - SCOPUS:84873051293
SN - 0066-4219
VL - 64
SP - 307
EP - 324
JO - Annual review of medicine
JF - Annual review of medicine
ER -