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Background <p>Collagen type IV (COL IV) is a crucial component of basement membranes, including the glomerular basement membrane (GBM), essential for kidney function. <i>COL4A3</i>, <i>COL4A4</i>, and <i>COL4A5</i> variants lead to a broad spectrum of kidney disorders. This paper investigates the clinical and genetic characteristics of a large Sicilian family with <i>COL4A</i> gene abnormalities.</p> Methods <p>Starting from a male patient with digenic Alport Syndrome, we collected clinical data through genealogical research and performed genetic analyses on nineteen members of his family. Kidney biopsies were available for three of them.</p> Results <p>We identified variants in <i>COL4A5</i> and <i>COL4A3</i> genes. Clinical and histological manifestations varied widely, even among individuals with the same variant, highlighting the remarkable phenotypic heterogeneity of collagen IV-related nephropathies.</p> Conclusions <p>Our findings underscore the pivotal role of genetic testing in guiding clinical management and advancing the understanding of collagen IV-related kidney diseases. Moreover, this study emphasizes the need for further research to elucidate the intricate interplay between genetic variants and histological and clinical phenotypes, thereby paving the way for personalized therapeutic approaches in collagen IV-associated nephropathies.</p> Graphical abstract <p></p>

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The complexity of kidney disease secondary to collagen IV variants: insights into phenotypic variability from a large Sicilian pedigree

  • 期刊论文

  • 发表日期：

    2025年6月16日

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  • Elisa Longhitano,
  • Giulia Margherita Brach del Prever,
  • Claudia Spinella,
  • Valeria Bracciamà,
  • Vincenzo Calabrese,
  • Antonio Amoroso,
  • Giovanni Conti,
  • Giuseppe Remuzzi,
  • Thorsten Wiech,
  • Marina Noris,
  • Silvia Deaglio,
  • Domenico Santoro

摘要

Background

Collagen type IV (COL IV) is a crucial component of basement membranes, including the glomerular basement membrane (GBM), essential for kidney function. COL4A3, COL4A4, and COL4A5 variants lead to a broad spectrum of kidney disorders. This paper investigates the clinical and genetic characteristics of a large Sicilian family with COL4A gene abnormalities.

Methods

Starting from a male patient with digenic Alport Syndrome, we collected clinical data through genealogical research and performed genetic analyses on nineteen members of his family. Kidney biopsies were available for three of them.

Results

We identified variants in COL4A5 and COL4A3 genes. Clinical and histological manifestations varied widely, even among individuals with the same variant, highlighting the remarkable phenotypic heterogeneity of collagen IV-related nephropathies.

Conclusions

Our findings underscore the pivotal role of genetic testing in guiding clinical management and advancing the understanding of collagen IV-related kidney diseases. Moreover, this study emphasizes the need for further research to elucidate the intricate interplay between genetic variants and histological and clinical phenotypes, thereby paving the way for personalized therapeutic approaches in collagen IV-associated nephropathies.

Graphical abstract