C3 Glomerulonephritis With Multiple Mutations in Complement Factor H

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DALILI NOOSHIN; BEHNAM BABAK; Vali Farzaneh; PARVIN MAHMOUD; Torbati Peyman; Rasaii Nakisa; SAMADIAN FARIBA; AHMADPOOR PEDRAM

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Journal: Iranian Journal of Kidney Diseases Year:2018 | Volume:12 | Issue:6 Page(s): 376-381

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Title

C3 Glomerulonephritis With Multiple Mutations in Complement Factor H

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Keywords

complement C3 glomerulopathy

complement pathway

complement factor H

gene mutations

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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APA: Copy

DALILI, NOOSHIN, Vali, Farzaneh, PARVIN, MAHMOUD, Torbati, Peyman, Rasaii, Nakisa, SAMADIAN, FARIBA, & AHMADPOOR, PEDRAM. (2018). C3 Glomerulonephritis With Multiple Mutations in Complement Factor H. IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD), 12(6), 376-381. SID. https://sid.ir/paper/309730/en

Vancouver: Copy

DALILI NOOSHIN, Vali Farzaneh, PARVIN MAHMOUD, Torbati Peyman, Rasaii Nakisa, SAMADIAN FARIBA, AHMADPOOR PEDRAM. C3 Glomerulonephritis With Multiple Mutations in Complement Factor H. IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD)[Internet]. 2018;12(6):376-381. Available from: https://sid.ir/paper/309730/en

IEEE: Copy

NOOSHIN DALILI, Farzaneh Vali, MAHMOUD PARVIN, Peyman Torbati, Nakisa Rasaii, FARIBA SAMADIAN, and PEDRAM AHMADPOOR, “C3 Glomerulonephritis With Multiple Mutations in Complement Factor H,” IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD), vol. 12, no. 6, pp. 376–381, 2018, [Online]. Available: https://sid.ir/paper/309730/en

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