A familial C3GN secondary to defective C3 regulation by complement receptor 1 and complement factor H
S Chauvet, LT Roumenina, S Bruneau… - Journal of the …, 2016 - journals.lww.com
C3 glomerulopathy is a recently described form of CKD. C3GN is a subtype of C3
glomerulopathy characterized by predominant C3 deposits in the glomeruli and is commonly
the result of acquired or genetic abnormalities in the alternative pathway (AP) of the
complement system. We identified and characterized the first mutation of the C3 gene (p.
I734T) in two related individuals diagnosed with C3GN. Immunofluorescence and electron
microscopy studies showed C3 deposits in the subendothelial space, associated with …
glomerulopathy characterized by predominant C3 deposits in the glomeruli and is commonly
the result of acquired or genetic abnormalities in the alternative pathway (AP) of the
complement system. We identified and characterized the first mutation of the C3 gene (p.
I734T) in two related individuals diagnosed with C3GN. Immunofluorescence and electron
microscopy studies showed C3 deposits in the subendothelial space, associated with …