• Ivana Trutin, Lea Oletić, Danica Galešić Ljubanović, Daniel Turudić, and Danko Milošević.
• 1Department of Pediatrics, Sestre milosrdnice University Hospital Centre, Zagreb, Croatia; 2Division of Renal Pathology and Electron Microscopy, Department of Pathology, Dubrava University Hospital, ZagrebCroatia; 3University of Zagreb, School of Medicine, Zagreb, Croatia; 4Zagreb University Hospital Centre, Zagreb, Croatia.
• Acta Clin Croat. 2021 Mar 1; 60 (1): 141-145.

AbstractWe 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.

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