D. Batinić

Alport's syndrome (AS) is an inherited disease characterized by progressive nephritis and neural hearing loss. Associated changes in other organs, such as eyes or smooth muscles, or hematological abnormalities, are known to occur in some patients with AS. The disease is caused by mutations of the genes who encode α chains of the collagen IV. The more common X-linked form of the disease is consequence of COL4A5 gene mutation, while the autosomal recessive or rare autosomal dominant forms are caused by the COL4A3 and COL4A4 genes mutation localised to cromosome 2. Thin glomerular basement membrane disease could be the carrier-state for autosomal recessive AS. The diagnosos of the disease relies on clinical symptoms, positive family history and characteristic ultrastructural changes of glomerular basement membrane (GBM). It can be confirmed by demonstration of mutation or much simplier imunohistochemically by absence of α-5 chains of collagen IV from GBM or skin basement membrane. Renal transplantation is currently the treatment of choice for AS. The rare complication is the development of anti-GBM nephritis.