Alport syndrome
February 9 2016
Recommended panel testing at Breda Genetics: Alport syndrome, Epstein syndrome and Fechtner syndrome (COL4A3, COL4A4, COL4A5, MYH9) Summary Alport syndrome is a hereditary progressive glomerulopathy characterized by hematuria and proteinuria. The disease is caused by a gene mutation and affects the production of collagen type IV, which is an abundant component of the glomerular basement membrane. Detailed clinical
