ESPN 50th Annual Meeting

ESPN 2017


 
Glomerulopathy with fibronectin deposits: a rare but possible cause of proteinuria in paediatric age
DANIELA MOLINO 1 MADDALENA GIGANTE 2 STERPETA DIELLA 2 FRANCESCA NUZZI 1 MARIA DARMIENTO 3 VALENTINA BRUNO 1 CARMINE PECORARO 1

1- UNIT OF NEPHROLOGY AND DIALYSIS, CHILDREN HOSPITAL SANTOBONO, NAPLES, ITALY
2- UNIT OF NEPHROLOGY AND DIALYSIS, UNIVERSITY OF FOGGIA
3- UNIVERSITY "FEDERICO II NAPLES ITALY
 
Introduction:

 Glomerulopathy with fibronectin deposits (GFND) is an extremely rare autosomal dominant disease with age-related penetrance, characterized by proteinuria, microscopiche ematuria, hypertension and massive fibronectin deposits in the mesangiumand subendothelial space, leading to end-stage renal failure. It usually develops in adulthood. Only two cases with childhood onset have been described in literature so far.

Material and methods:

 We report the case of a two year-old male child who presented with mild proteinuria, normal kidney function and mild increase of creatine kinase and lactated hydrogenase plasmatic levels. The physical and neurological examination showed short stature, rhizomelia and speech delay.

Results:

 Given the presence of persistent proteinuria, a targeted resequencing analysis of 27 genes related to nephrotic syndrome was performed and a novel missense variant, c.341G>T (p.Arg114Leu) in the FN1 gene, associated with GFND, was found. The pathogenicity of this variant is supported by its absence in any public database and in silico predictions with a DANN Score of 0.9987 (Varsome).  However, a kidney biopsy is still required to confirm the diagnosis by showing the presence of fibronectin  deposits.

Conclusions:

GFND should also be considered in the differential diagnosis of persistent proteinuria in pediatrics age, even if it is rarely described in childhood. Accordingly, molecular analysis of FN1 gene should be included in the genetic work-up of persistent proteinuria.