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

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.