Hereditary C2 deficiency associated with non-systemic glomerulonephritis.
A patient with non-systemic idiopathic glomerulonephritis was found to have a complete deficiency of C2, the second component of complement. The clinical course, histological findings and serological abnormalities are reported in detail. The renal disease was a mild glomerulonephritis with mesangial and subendothelial immune deposits comprising IgG, IgM and C3, increased mesangial matrix without significant cell proliferation. An immunogenetic analysis of the patient's family was carried out. It was demonstrated that the homozygous C2 deficiency was associated with heterozygotism for HLA-A, B and D. Only one of the C2 deficient genes was associated with the expected HLA-A10, B18 haplotype and the propositus was HLA-D2 negative. This report confirms the fact that non-systemic glomerulonephritis should be included in the variety of immunological disorders associated with a complement deficient state. However, C2 deficiency does not seem to be related specifically to a given histological variety of glomerulonephritis.
D000328:Adult; D003175:Complement C2 / Q000172:deficiency*; D003176:Complement C3; D005260:Female; D005455:Fluorescent Antibody Technique; D005921:Glomerulonephritis / Q000150:complications* / Q000473:pathology; D006680:HLA Antigens / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007678:Kidney Glomerulus / Q000276:immunology / Q000648:ultrastructure; D010375:Pedigree
D003175:Complement C2; D003176:Complement C3; D006680:HLA Antigens; D007074:Immunoglobulin G; D007075:Immunoglobulin M