Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome

摘要: Introduction: Abnormal control of the complement alternative pathway (CAP) (factor H, factor I and membrane cofactor protein (MCP) deficiencies) is a well established risk for occurrence haemolytic uraemic syndrome (HUS). In some instances, HUS may be associated with an unusual glomerulonephritis isolated C3 deposits (glomerulonephritis C3). We determined whether share common genetic susceptibility factors. Methods: identified 19 patients C3. measured levels circulating components, performed assays detection nephritic (C3NeF) screened MCP coding genes presence mutations. Results: Patients were divided in two groups based on renal pathology findings: group (n = 13) had typical features type membranoproliferative (MPGN)) II (n = 6) was characterised by mesangial epimembranous absence proliferation without MPGN). Mutations regulatory detected 4/6 MPGN (heterozygous mutations H gene (two patients) low antigenic level one case, heterozygous patients)) only 2/13 (one patient) double mutation CD 46 patient)). contrast, C3NeF present 5/13 2/6 MPGN, whom mutation. Conclusion: Constitutional or acquired dysregulation CAP probably wide spectrum diseases, ranging from to MPGN.