Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
Antonio MastrangeloCatarina MadeiraPierangela CastorinaMarisa GianiGiovanni MontiniPublished in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (2022)
Despite the benign course for these patients described in the literature, a significant percentage is at risk for disease progression. Consequently, we suggest that the assessment of these patients must take into account family history, genetic analysis and pathologic findings. After comparison with the literature, our data suggest that a different definition for Alport syndrome must be considered.