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Alport Syndrome

New Alport syndrome findings from K. Hopker and co-authors described

Published in Genetics and Environmental Health Week, June 3rd, 2009

"Alport syndrome is a progressive hereditary renal disease. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease," scientists in Cologne, Germany report.

"Alport syndrome is often associated with sensorineural hearing loss and ocular abnormalities, and patients suffering from typical Alport syndrome usually develop end stage renal disease during adolescence or young adulthood. Here we report on a family with atypical Alport disease initially presenting as hereditary focal and segmental glomerulosclerosis," wrote K. Hopker and colleagues.

The researchers concluded:...

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