X-linked Alport Syndrome

The figure illustrates the clinical features of X-linked Alport Syndrome in humans. Alport Syndrome is a hereditary condition caused by mutations in the collagen IV gene, which results in the loss of collagen IV trimers formation. Since collagen IV is abundant in the glomerular basement membrane of kidneys, patients with Alport Syndrome develop hematuria, albuminuria, and proteinuria in childhood. As patients with Alport Syndrome age, kidney function progressively declines until patients end up with an end-stage renal disease.

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