Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane.
Alport-type familial nephritis (FN), a genetic disorder, results in progressive renal insufficiency and sensorineural hearing loss. Immunochemical and biochemical analyses of the non-collagenous (NC1) domain of type IV collagen isolated from the glomerular basement membranes (GBM) of three males with this disease demonstrate absence of the normally occurring 28-kilodalton (kD) NC1 monomers, but persistence of the 26- and 24-kD monomeric subunits derived from alpha 1 and 2 (both type IV) collagen chains, respectively.
Kleppel
M M
MM
Kashtan
C E
CE
Butkowski
R J
RJ
Fish
A J
AJ
Michael
A F
AF
D001485:Basement Membrane / Q000378:metabolism; D003094:Collagen / Q000378:metabolism*; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D007124:Immunoenzyme Techniques; D007678:Kidney Glomerulus / Q000378:metabolism*; D046911:Macromolecular Substances; D008297:Male; D009394:Nephritis, Hereditary / Q000378:metabolism*
D046911:Macromolecular Substances; D003094:Collagen