Acta clinica Croatica, Vol. 60. No. 1., 2021.
Recenzija, Prikaz slučaja
https://doi.org/10.20471/acc.2021.60.01.21
A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity
Ivana Trutin
orcid.org/0000-0001-8419-0427
; Department of Pediatrics, Sestre milosrdnice University Hospital Centre, Zagreb, Croatia
Lea Oletić
; Department of Pediatrics, Sestre milosrdnice University Hospital Centre, Zagreb, Croatia
Danica Galešić Ljubanović
; Division of Renal Pathology and Electron Microscopy, Department of Pathology, Dubrava University Hospital, Zagreb Croatia; University of Zagreb, School of Medicine, Zagreb, Croatia
Daniel Turudić
orcid.org/0000-0002-6598-7489
; Zagreb University Hospital Centre, Zagreb, Croatia
Danko Milošević
; University of Zagreb, School of Medicine, Zagreb, Croatia; Zagreb University Hospital Centre, Zagreb, Croatia
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. 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.
Ključne riječi
Dense deposit disease; C3 glomerulopathy; Children; Nephritic syndrome
Hrčak ID:
259962
URI
Datum izdavanja:
1.3.2021.
Posjeta: 1.009 *