Rare Variants in Complement Gene in C3 Glomerulopathy and Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis.
Marie Sophie MeulemanPaula Vieira MartinsCarine El SissyVincent AudardVeronique BaudouinDominique BertrandFrank BridouxFérielle LouilletClaire DossierVincent L M EsnaultNoémie Jourde-ChicheAlexandre KarrasMarie-Pascale MorinFrançois ProvotPhilippe RemyDavid RibesCaroline Rousset-RouviereAude ServaisEric ThervetLeïla TricotMohamad ZaidanAlain WynckelJulien ZuberMoglie Le QuintrecVéronique Frémeaux-BacchiSophie ChauvetPublished in: Clinical journal of the American Society of Nephrology : CJASN (2023)
In our cohort, 17% of C3 glomerulopathy/Ig-MPGN cases were associated with rare variants in the CFH, CFI, or C3 genes. In the majority of cases, a quantitative deficiency in factor H or factor I is identified. The presence of a rare variant was associated with poor kidney survival.