Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome

10.1038/84853 ◽  
2001 ◽  
Vol 27 (2) ◽  
pp. 205-208 ◽  
Author(s):  
Roy Morello ◽  
Guang Zhou ◽  
Sandra D. Dreyer ◽  
Scott J. Harvey ◽  
Yoshifumi Ninomiya ◽  
...  
Keyword(s):  
Basement Membrane ◽  
Renal Disease ◽  
Glomerular Basement Membrane ◽  
Collagen Expression ◽  
Basement Membrane Collagen ◽  
Nail Patella Syndrome ◽  
Membrane Collagen

Thin glomerular basement membrane nephropathy and other collagenopathies

2018 ◽  
Author(s):  
Laurence Heidet ◽  
Bertrand Knebelmann ◽  
Marie Claire Gubler
Keyword(s):  
Basement Membrane ◽  
Renal Disease ◽  
Renal Biopsy ◽  
Glomerular Basement Membrane ◽  
Alport Syndrome ◽  
Autosomal Dominant ◽  
Increased Risk ◽  
Autosomal Dominant Fashion ◽  
Nail Patella Syndrome

The discovery of a thin glomerular basement membrane in a renal biopsy without any other abnormalities can be explained in a number of ways. This could be an early biopsy in a patient with Alport syndrome, or it could be an individual who is a carrier for an Alport gene. These carriers are at increased risk of significant renal disease in their lifetime and some have proteinuria as well as haematuria, so they can no longer be equated with the historic label of benign familial haematuria. Some families with a thin glomerular basement membrane and haematuria inherited in an autosomal dominant fashion do not appear to have linkage to COL4 genes. Others have variable renal disease that has sometimes given rise to a label of mild but autosomal dominant Alport syndrome. This territory might also attract the label basement membrane 345 collagenopathy. Other uncommon conditions affecting the glomerular basement membrane include nail patella syndrome.

Sign in / Sign up

Export Citation Format

Share Document