A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome

We report a unique case of a 9-year-old boy who was biopsied for hematur ia and proteinuria, diagnosed as IgA nephropathy, with normal GBM appearance and thickness. Due to a family history of hematuria and chronic kidney disease, he subsequently underwent genetic evaluation and a mutation of α3 type IV collagen (COL4A3) was detected.

Source: Human Pathology - March 9, 2018 Category: Pathology Authors: Gisella Vischini, Meghan E. Kapp, Ferrin C. Wheeler, Laszlo Hopp, Agnes B. Fogo Source Type: research