Alport Syndrome: A Comprehensive Review on Genetics, Pathophysiology, Histology, Clinical and Therapeutic Perspectives.

Abstract excerpt

BACKGROUND: Alport syndrome (AS) is a disease caused by mutations in COL4A3, COL4A4 or COL4A5, the genes that encode distinct chains of type IV collagen. The vast majority of cases present as an inherited disorder, although de novo mutations are present in around 10% of the cases. METHODS: This non-systematic review summarizes recent evidence on AS. We discuss the genetic and pathophysiology of AS, clinical...

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• Basement Membrane
• Collagen Type IV
• Kidney
• Mutation
• Nephritis, Hereditary