Feasibility of repairing glomerular basement membrane defects in Alport syndrome

X Lin, JH Suh, G Go, JH Miner - Journal of the American Society of …, 2014 - journals.lww.com
Alport syndrome is a hereditary glomerular disease that leads to kidney failure. It is caused
by mutations affecting one of three chains of the collagen α3α4α5 (IV) heterotrimer, which
forms the major collagen IV network of the glomerular basement membrane (GBM). In the
absence of the α3α4α5 (IV) network, the α1α1α2 (IV) network substitutes, but it is insufficient
to maintain normal kidney function. Inhibition of angiotensin-converting enzyme slows
progression to kidney failure in patients with Alport syndrome but is not a cure. Restoration …