Naslov
A child with dense deposit disease and decreased classic complement pathway activity

Autori
Trutin, Ivana ; Oletić, Lea ; Galešić Ljubanović, Danica ; Turudić, Daniel ; Milošević, Danko

Izvornik
Acta clinica Croatica (0353-9466) 60 (2021), 1; 141-145

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, ostalo

Ključne riječi
bolest gustih depozita ; C3 glomerulopatija ; djeca ; nefritički sindrom
(dense deposit disease ; C3 glomerulopathy ; children ; nephritic syndrome)

Sažetak
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. A 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 classical 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 has led to a satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, the proper approach to such specific glomerulopathy is important to avoid or at least to slow the progression to end-stage renal disease

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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