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Background <p>Immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) and Alport syndrome are distinct glomerular diseases with different pathophysiologic mechanisms. Their coexistence is extremely rare and may present diagnostic and therapeutic challenges.</p> Case presentation <p>A 42-year-old woman presented with persistent proteinuria and hematuria. Initial laboratory evaluations showed a progressive increase in proteinuria. She had a family history of renal disease. A renal biopsy, which had initially been postponed on patient request, subsequently revealed diffuse mesangial and focal endocapillary proliferation, GBM thickening, periglomerular fibrosis, and immune complex deposition with IgM, C3, and C1q, thereby confirming the diagnosis of IC-MPGN. Genetic testing identified a heterozygous COL4A5 c.1871G &gt; A (p.Gly624Asp) mutation consistent with X-linked Alport syndrome. The patient follows conservative management now.</p> Conclusion <p>This case highlights the rare coexistence of IC-MPGN, chronic TIN and Alport syndrome. In patients with progressive glomerular disease, especially with a family history of renal disease or extrarenal findings, genetic evaluation should be considered. Early renal biopsy and genetic testing are essential to guide management in complex cases with overlapping features.</p>

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A rare case of dual glomerular pathology: Alport syndrome and immune complex-mediated MPGN

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月3日

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  • Seyda Gul Ozcan,
  • Eylul Koc,
  • Ahmet Murt,
  • Mevlut Tamer Dincer,
  • Iclal Gurses,
  • Nurhan Seyahi,
  • Sinan Trabulus

摘要

Background

Immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) and Alport syndrome are distinct glomerular diseases with different pathophysiologic mechanisms. Their coexistence is extremely rare and may present diagnostic and therapeutic challenges.

Case presentation

A 42-year-old woman presented with persistent proteinuria and hematuria. Initial laboratory evaluations showed a progressive increase in proteinuria. She had a family history of renal disease. A renal biopsy, which had initially been postponed on patient request, subsequently revealed diffuse mesangial and focal endocapillary proliferation, GBM thickening, periglomerular fibrosis, and immune complex deposition with IgM, C3, and C1q, thereby confirming the diagnosis of IC-MPGN. Genetic testing identified a heterozygous COL4A5 c.1871G > A (p.Gly624Asp) mutation consistent with X-linked Alport syndrome. The patient follows conservative management now.

Conclusion

This case highlights the rare coexistence of IC-MPGN, chronic TIN and Alport syndrome. In patients with progressive glomerular disease, especially with a family history of renal disease or extrarenal findings, genetic evaluation should be considered. Early renal biopsy and genetic testing are essential to guide management in complex cases with overlapping features.