Advances in Alport syndrome

Alport syndrome is a rare genetic disorder of specialized basement membranes in the kidney, ear, and eye.Eighty percent of patients have X-linked disease caused by mutations in the COL4A5 gene; autosomal forms of the other Alport syndrome are caused by mutations in COL4A3 and COL4A4 genes.These mutations result in progressive irregular thickening, thinning, and splitting of the GBM, leading to end stage renal failure.During the past two decades, research into this rare disease has focused on the effects of mutations in collagen type IV α chains and the role of changes in podocytes and the glomerular basement membrane that lead to early kidney fibrosis.In this review, we discuss the latest basic and clinical research on Alport syndrome, focusing on the roles of podocyte pathology and the extracellular matrix. Key words: Alport syndrome; Mutations in the COL4A5; Collagen IV αchains; Podocytes; Basement membranes