ESPN 51th Annual Meeting

ESPN 2018


 
Steroid-resistant nephrotic syndrome - 19-years experience at a Portuguese Terciary Center
SARA SILVA LEITE 1 TERESA PENA 1 LIANE CORREIA-COSTA 1 LILIANA ROCHA 1 ANA TEIXEIRA 1 TERESA COSTA 1 PAULA MATOS 1 MARIA DO SAMEIRO FARIA 1 CONCEIÇãO MOTA 1 CALDAS AFONSO 1

1- UNIDADE DE NEFROLOGIA PEDIáTRICA, CENTRO MATERNO-INFANTIL DO NORTE/CENTRO HOSPITALAR UNIVERSITáRIO DO PORTO
 
Introduction:

We aimed to describe children with SRNS,including genetic testing results,to clarify which characteristics might influence outcome in this particularly challenging group of patients.  

Material and methods:

Retrospective analysis of non-congenital SRNS cases followed at a Pediatric Nephrology tertiary center,between 1999-2018.SRNS was defined as no remission within four weeks of daily prednisolone at a dose of 60 mg/m2 and 3 boluses of methylprednisolone.Complete (CR),partial (PR),no remission (NR) and progression to chronic kidney disease (CKD) were the outcomes considered.

Results:

Twenty-four children (12 males) with a median age at presentation of 9.7 (P25-P75, 2.0-12.5) years were included.In 44% of patients,hypertension (HTN) and renal failure (RF) were present at diagnosis.Cyclosporine was initiated in 46% of cases and cyclophosphamide in 33%.Four patients progressed rapidly to end-stage renal disease and were immediately referred to transplant.Histopathology revealed minimal change disease (MCD) in 33%,focal segmental glomerulosclerosis (FSGS) in 29%,mesangioproliferative glomerulonephritis (MSPG) in 17% and mesangial sclerosis in 17%.Genetic mutations were identified in 55% (22 tested) patients (64% in NPHS2 gene).Patients with genetic alterations (40% MCD, 30% MSPG and 20% FSGS) were younger at diagnosis (5.3(2.6-11.2) vs. 12.2(0.4-15.3)years, p=0.001) and only 9% went on remission.During a median follow-up of 8 years, 33% of patients progressed to CKD and 33% went on remission (8% CR and 25% PR).Those who progressed to CKD were younger at diagnosis (2.9(3.5-13.6) vs. 10.8(3.5-13.6)years, p<0.05),67% presented HTN at diagnosis (NS) and 38% had identified mutations (NS).

Conclusions:

Younger age was the only variable associated to positive genetic testing and to CKD progression.The early recognition of children with worse prognosis and genetic alterations is crucial to help us guide therapeutic options.In our sample,although we describe a high prevalence of positive genetic testing,a direct association with CKD progression was not found.A wider genetic analysis with novel panels,even reevaluating patients with earlier negative results,might increase our ability to report an association.