Membranoproliferative pattern of glomerular injury associated with complement component 9 deficiency due to Arg95Stop

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Glomerular Outgrowth as an Ex Vivo Assay to Analyze Pathways Involved in Parietal Epithelial Cell Activation
06:39

Glomerular Outgrowth as an Ex Vivo Assay to Analyze Pathways Involved in Parietal Epithelial Cell Activation

Published on: August 19, 2020

Takayoshi Miura1, Shin Goto, Seitaro Iguchi

  • 1Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, Niigata 951-8510, Japan.

Clinical and Experimental Nephrology
|November 9, 2010
PubMed

Insights

Complement component 9 deficiency (C9D), caused by an Arg95Stop mutation, may predispose individuals to specific forms of glomerulonephritis. This study identified C9D in Japanese CKD patients, linking it to kidney disease pathology.

Area of Science:

  • Nephrology
  • Immunology
  • Genetics

Background:

  • The Arg95Stop mutation in the complement component 9 (C9) gene is prevalent in Japanese individuals with C9 deficiency (C9D).
  • The impact of C9D on human glomerulonephritis is not well understood.

Purpose of the Study:

  • To investigate the association between C9 deficiency and glomerulonephritis in Japanese patients with chronic kidney disease (CKD).

Main Methods:

  • Screened 1288 CKD patients in Niigata prefecture for the Arg95Stop C9 gene mutation using allele-specific PCR.
  • Analyzed clinical data, renal biopsies, and complement activity (CH50) in identified C9D cases.

Main Results:

  • Identified two C9D patients (0.16%) among 1288 CKD patients, a frequency similar to the general Japanese population.
  • Both patients exhibited glomerulonephritis characterized by mesangial proliferation and glomerular capillary wall duplication.
  • C9D was found in 5.1% of patients with mesangial proliferation and GBM duplication, suggesting a potential link.

Conclusions:

  • The absence of the membrane attack complex due to C9 deficiency may increase susceptibility to specific types of glomerulonephritis.
  • The Arg95Stop mutation in the C9 gene is implicated as a predisposing factor for pathognomonic glomerulonephritis.
Abstract

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