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C3 glomerulopathy in cystic fibrosis: a case report.

C3 glomerulopathy in cystic fibrosis: a case report.
Author Information (click to view)

Santoro D, Siligato R, Vadalà C, Lucanto M, Cristadoro S, Conti G, Buemi M, Costa S, Sabadini E, Magazzù G,


Santoro D, Siligato R, Vadalà C, Lucanto M, Cristadoro S, Conti G, Buemi M, Costa S, Sabadini E, Magazzù G, (click to view)

Santoro D, Siligato R, Vadalà C, Lucanto M, Cristadoro S, Conti G, Buemi M, Costa S, Sabadini E, Magazzù G,

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BMC nephrology 2018 03 2819(1) 73 doi 10.1186/s12882-018-0880-y

Abstract
BACKGROUND
C3 glomerulonephritis is a rare glomerulopathy characterized at renal biopsy by C3 deposition, alone or with scanty immunoglobulins, as well as by an electron-dense material in mesangium, subendothelial and subepithelial space. An abnormal systemic activation of the alternative pathway of the complement cascade is responsible for the development of the disease if triggered by several possible environmental conditions. We report the first case in literature of a patient affected by cystic fibrosis and C3GN.

CASE PRESENTATION
Our case involves a young woman with cystic fibrosis, who had persistent microscopic hematuria, proteinuria and hypocomplementemia C3 for over three months. Renal biopsy confirmed the diagnosis of C3 glomerulopathy. Complement system dysregulation was tested and resulted in a strong terminal pathway activation proved by high levels of sC5b-9 complex, amounting to 1588 ng/ml (normal value < 400 ng/ml). Next generation sequencing (NGS) showed polymorphism in CFH (p.V62I in SCR1) and THBD (p.A473V), already known as pathogenic for C3GN, as well as a mutation in C3 (p.R102G) associated only with age-related macular degeneration (AMD) so far. Treatment was based on ACE inhibitors and kidney function is currently stable (GFR 50 ml/min, serum creatinine 1.7). CONCLUSIONS
The co-existence of C3 glomerulopathy in a patient with CF, which is characterized by chronic infection/inflammation, makes this case an interesting model of chronic altered systemic activation of the alternative pathway of the complement cascade.

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