Introduction:
C3GN is a rare disorder that typically results from abnormality in alternative pathway of complement system. It is characterized by deposition of predominant C3 component of complement with or without small amount of immunoglobulin in mesangial subepithelial and subendothelial glomerular areas. Pathogenetic mutation occurs in C3 , complement factor B, complement factor H, complement factor I and CFHR5. Autoantibodies against C3 nephrotic factor, C5 nephritic factor, anti CHF antibodies and anti complement factor B autoantibodies are also associated with this. Complement factor F regulates alternative pathway, anti complement factor H autoantibodies due to deletion of CFHR 1 and 3 can cause atypical HUS.
Methods:
A twenty two year old presented with history of bilateral lower limb swelling six years back. Urine examination was suggestive of microscopic hematuria and proteinurea. Renal biopsy was performed which was suggestive of MPGN pattern on histology with predominant C3 deposition on immunofluorescence. Patient was started on steroid and mycophenolate moefitil .Her renal dysfunction progressively worsen and she became dialysis dependent after four years. She presented to us for renal transplant. During pretransplant workup she was found to have low C3 level.
Results:
Genetic workup was done which revealed CFHR 1 and 3 mutation in both her and her mother.
Conclusions:
Here we report a case of C3GN associated with CFHR1 and 3 mutation in a young female and her mother
I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.