Alport syndrome

Alport syndrome is a multisystem disorder including progressive renal disease, sensorineural deafness, and eye abnormalities. The high risk of cardiovascular pathology in patients with Alport syndrome was also described recently. The syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5 genes, which lead to defects in glomerular filtration barrier and other basement membrane. The diagnosis of Alport syndrome should be suspected in patients with glomerular hematuria and with family history of renal failure. The severity of the individual symptoms and renal prognosis are variable and depend on gene mutation type. The current standard of treatment is the use of angiotensin-converting enzyme inhibitors, which delay the progression of renal failure in Alport syndrome. The recent knowledge in pathogenesis of disease opens new therapeutic perspectives.