Abstract
C3 glomerulopathy is a newly defined glomerular disease dominated by C3 complement storage and uncertain C1, C4, and immunoglobin accumulations. Hereditary mutations associated with Complement Factor H (CFH) causing hyperactivation of the alternative complement pathway were identified. Most mutations associated with C3 glomerulopathy are associated with the N-terminal end. Whether mutations are pathogenic or not will direct diagnosis and treatment. We present 2 cases, one 61-year-old and one 24-year-old attending our clinic at different times with hematuria, proteinuria, edema, and kidney failure. Both patients had C3 glomerulopathy diagnosed based on the results of kidney biopsy and were treated with eculizumab. Both cases had CFH-associated mutations.
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Kapsamı
Uluslararası
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Type
Hakemli
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Index info
WOS.ESCI
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Language
English
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Article Type
None