C3 glomerulopathy

Definition:

C3 glomerulopathy (C3G) describes a pathologic pattern of injury diagnosed by renal biopsy characterized by the dominant deposition of the third component of complement (C3) in the renal glomerulus. Autoantibodies to the C3 and C5 convertases of complement are the most commonly detected drivers of complement dysregulation, although genetic mutations in complement genes can also be found.

References:

[1]. Amanda K Heiderscheit, et al. C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):344-357. [Content Brief]

[2]. B H Ault, et al. Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. J Biol Chem. 1997 Oct 3;272(40):25168-75. [Content Brief]

[3]. Daniel P Gale, et al. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet. 2010 Sep 4;376(9743):794-801. [Content Brief]

[4]. T J Vyse, et al. The molecular basis of hereditary complement factor I deficiency. J Clin Invest. 1996 Feb 15;97(4):925-33. [Content Brief]

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