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  • Title: C3 Glomerulonephritis With Multiple Mutations in Complement Factor H.
    Author: Dalili N, Behnam B, Vali F, Parvin M, Torbati P, Rasaii N, Samadian F, Ahmadpoor P.
    Journal: Iran J Kidney Dis; 2018 Nov; 12(6):376-381. PubMed ID: 30595568.
    Abstract:
    Complement C3 glomerulopathy refers to a disease process in which abnormal control of complement activation or degradation results in predominant C3 fragment deposition within the glomerulus and causes glomerular damage. Abnormal control of the complement alternative pathway is a well-established risk factor for the occurrence of C3 glomerulonephritis. It is the first reported case in Iran with multiple mutations in complement factor H, with one of these mutations we have expected in hemolytic uremic syndrome rather than C3 glomerulopathy Genetic analysis showed that the molecular abnormalities of factor H led to complement factor H malfunction that were polymorphous and not restricted to the C-terminal domains of the protein.
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