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Article

Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene

2 Aug 2016

Abstract excerpt

C3 glomerulopathy (C3G) is an ultra-rare complement-mediated renal disease characterized histologically by the predominance of C3 deposition within in the glomerulus. Familial cases of C3G are extremely uncommon and offer unique insight into the genetic drivers of complement dysregulation. In this report, we describe a patient who presented with C3G. Because a relative carried the same diagnosis, we sought an...

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PMID: 27490940
DOI: 10.1016/j.molimm.2016.07.007

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