A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity

Abstract

We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease.

Coexistence of cryoglobulinemia and ANCA-associated vasculitis in a chronic brucellosis patient -A case report and literature review

“…In the clinic, both of them share the manifestation of nephritic/nephrotic syndrome, hypocomplementemia, hypertension and renal insu ciency. However, hump-like deposits under epithelial cells in an electron microscope strongly support the diagnosis of APIGN [20]. The occupational exposure to aborted sheep and a history of chronic brucellosis is the backer of APIGN and the good response to steroid treatment also favors the diagnosis of APIGN.…”

Coexistence of cryoglobulinemia and ANCA-associated vasculitis in a chronic brucellosis patient -a case report and literature review

“…In the clinic, both of them share the manifestation of nephritic/nephrotic syndrome, hypocomplementemia, hypertension and renal insufficiency. However, hump-like deposits under epithelial cells in an electron microscope strongly support the diagnosis of APIGN [ 24 ]. Occupational exposure to aborted sheep and a history of chronic brucellosis is the backer of APIGN and the good response to steroid treatment also favors the diagnosis of APIGN.…”