Proliferative Glomerulonephritis Secondary to Dysfunction of the Alternative Pathway of Complement

Clinical journal of the American Society of Nephrology : CJASN - Tập 6 Số 5 - Trang 1009-1017 - 2011
Sanjeev Sethi1, Fernando C. Fervenza2, Yuzhou Zhang3, Samih H. Nasr1, Nelson Leung2, Julie A. Vrana1, Carl H. Cramer2, Carla Nester4, Richard J. Smith4
1Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
2Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota
3Molecular Otolaryngology and Renal Research Laboratories and
4Internal Medicine and; Molecular Otolaryngology and Renal Research Laboratories and; Pediatrics, Divisions of Nephrology, Carver College of Medicine, Iowa City, Iowa

Tóm tắt

Summary Background and objectives

dense deposit disease (DDD) is the prototypical membranoproliferative glomerulonephritis (MPGN), in which fluid-phase dysregulation of the alternative pathway (AP) of complement results in the accumulation of complement debris in the glomeruli, often producing an MPGN pattern of injury in the absence of immune complexes. A recently described entity referred to as GN with C3 deposition (GN-C3) bears many similarities to DDD. The purpose of this study was to evaluate AP function in cases of GN-C3.

Design, setting, participants, & measurements

Five recent cases of MPGN with extensive C3 deposition were studied. Renal biopsy in one case exhibited the classic findings of DDD. Three cases showed GN-C3 in the absence of significant Ig deposition; however, the classic hallmark of DDD—dense deposits along the glomerular basement membranes and mesangium—was absent. The remaining case exhibited features of both DDD and GN-C3.

Results

Evidence of AP activation was demonstrable in all cases and included increased levels of soluble membrane attack complex (all cases), positive AP functional assays (four cases), and a positive hemolytic assay (one case). Autoantibodies were found to C3 convertase (two cases) and to factor H (one case). Factor H mutation screening identified the H402 allele (all cases) and a c.C2867T p.T956M missence mutation (one case). Laser microdissection and mass spectrometry of glomeruli of GN-C3 (two cases) showed a proteomic profile very similar to DDD.

Conclusions

These studies implicate AP dysregulation in a spectrum of rare renal diseases that includes GN-C3 and DDD.

Từ khóa


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