We have located links that may give you full text access.
COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. glomerular epithelium destruction via basement membrane thinning?
The recent description of multiple gene defects in hereditary podocytopathies and in hereditary glomerular basement membrane diseases has dramatically improved the current state of our knowledge on the renal glomerular filtration barrier. Recently described mutations in collagen IV and laminin in patients with hematuria and severe nephrotic syndrome add to other experimental data supporting the hypothesis that the glomerular basement membrane (GBM) may also have a significant role in protein filtration, a function previously attributed exclusively to the podocytes. Collagen IV heterozygous mutations were thought to cause only a mild form of renal disease (thin basement membrane nephropathy--TBMN). However, data from our laboratory show that many patients who carry such mutations may later on in life develop focal and segmental glomerulosclerosis, on top of the TBMN and the microscopic hematuria, a situation that frequently progresses to chronic renal failure or even end-stage renal disease. The role of unknown modifier genes may explain the heterogeneity of symptoms in TBMN and other glomerular diseases and in particular the selected development of chronic renal failure. The molecular communication between GBM and podocytes may also be a key factor in the search for these major genetic modifiers while their understanding may improve novel drug design for glomerular diseases.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app