The renal lesions of Alport syndrome
L Heidet, MC Gubler - Journal of the American Society of …, 2009 - journals.lww.com
Alport syndrome is a hereditary, progressive, hematuric nephropathy characterized by
glomerular basement membrane abnormalities with frequent hearing defects and ocular
anomalies. The disease is associated with mutations in genes encoding the α3, α4, or α5
chains of type IV collagen, COL4A3, or COL4A4 in the autosomal forms of the disease,
COL4A5 in the more frequent X-linked variety. Ultrastructural changes in the glomerular
basement membrane and frequent abnormal expression of type IV collagen chains in renal …
glomerular basement membrane abnormalities with frequent hearing defects and ocular
anomalies. The disease is associated with mutations in genes encoding the α3, α4, or α5
chains of type IV collagen, COL4A3, or COL4A4 in the autosomal forms of the disease,
COL4A5 in the more frequent X-linked variety. Ultrastructural changes in the glomerular
basement membrane and frequent abnormal expression of type IV collagen chains in renal …