Alport Syndrome and Thin Glomerural Basement Membrane Nephropathy

Hippokratia 2002, 6(1):16-30

SP Zanos, GA Sakellariou


Alport’s syndrome (AS) is a hereditary renal disease and the gene responsible for some of its variants has been identified and is responsible for the synthesis of a portion of the ?5 chain of the type IV collagen. It is also normally present in the membranes of the lens, eye and organ of Corti in the ear, suggesting that the absence could also explain the extrarenal manifestations of the disease. Two modes of inheritance have been described: X-linked dominant and, less commonly autosomal recessive. Afflicted male subjects have a less favorable prognosis than do female subjects. Alport’s syndrome is associated with hematuria, proteinuria, or progressive renal failure. Other extra-renal abnormalities are sensorineural hearing loss, eye changes and platelet dysfunction. The diagnosis of Alport’s syndrome can be made from renal biopsy with specific findings. Alport’s syndrome can usually be easily differentiated from benign form of familiar hematuria or thin basement membrane syndrome, which is an autosomal dominant disease with excellent prognosis.