Article
COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.
Journal of the American Society of Nephrology : JASN - 1 Nov 2007
Voskarides Konstantinos, Damianou Loukas, Neocleous Vassos, Zouvani Ioanna, Christodoulidou Stalo, Hadjiconstantinou Valsamakis, Ioannou Kyriacos, Athanasiou Yiannis, Patsias Charalampos, Alexopoulos Efstathios, Pierides Alkis, Kyriacou Kyriacos, Deltas Constantinos
Abstract excerpt
Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found in approximately 40% of cases of thin basement membrane nephropathy, which is characterized by microscopic hematuria and is classically thought to cause proteinuria and chronic renal failure rarely. Here we report our observations of 116 subjects from 13 Cypriot families clinically affected with thin basement membrane nephropathy. These...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.