Article
Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Questions.
Pediatric nephrology (Berlin, Germany) - 1 Feb 2017
Truong Jeanne, Deschênes Georges, Callard Patrice, Antignac Corinne, Niel Olivier
Abstract excerpt
BACKGROUND: Alport syndrome (AS) is an inherited glomerular disease associated with hearing and eye defects; its morbidity is a public health issue in developed countries. AS results from mutations in COL4A3, COL4A4, or COL4A5 genes, respectively encoding the alpha-3, alpha-4, and alpha-5 chains of type IV collagen, a major component of the renal glomerular basement membrane (GBM). The diagnosis is usually...
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