Article
A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome.
Human pathology - 1 Nov 2018
Vischini Gisella, Kapp Meghan E, Wheeler Ferrin C, Hopp Laszlo, Fogo Agnes B
Abstract excerpt
Alport syndrome is due to mutations in one of the genes encoding (α3,4,5) type IV collagen resulting in defective type IV collagen, a key component of the glomerular basement membrane (GBM). The GBM is initially thin and, with ongoing remodeling, develops a thickened basket-woven appearance. We report a unique case of a 9-year-old boy who underwent biopsy for hematuria and proteinuria, diagnosed as IgA...
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