Alport syndrome (AS) is a hereditary type IV collagen disease that leads to progressive proteinuria, renal fibrosis, and kidney failure. Depending on the mutated gene and the pattern of inheritance, there are three types of AS. Mutations in COL4A5 cause severe disease in males and a disease of variable severity (but usually much less severe) in females. Mutations in COL4A3 and COL4A4 are the cause of the autosomal forms of AS. Homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are the cause of autosomal recessive AS (ARAS), while a single mutation in either of these genes causes autosomal dominant AS (ADAS).
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