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Open Access 01-11-2014 | Original Article

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years

Authors: Jameela A. Kari, Giovanni Montini, Detlef Bockenhauer, Eileen Brennan, Lesley Rees, Richard S. Trompeter, Kjell Tullus, William van’t Hoff, Aoife Waters, Emma Ashton, Nicholas Lench, Neil J. Sebire, Stephen D. Marks

Published in: Pediatric Nephrology | Issue 11/2014

Abstract

Background

Nephrotic syndrome (NS) presenting early in life is caused by heterogeneous glomerular diseases. We retrospectively evaluated whether histological diagnosis in children presenting with NS in the first year of life predicts remission or progression to end-stage kidney disease (ESKD).

Methods

This is a single centre retrospective review of all children diagnosed with NS before one year of age between 1990 and 2009. All subjects had a renal biopsy, which was independently blindly reviewed by a single renal pathologist for the purpose of this study.

Results

Forty-nine children (25 female) who presented at 0.1–11.6 (median 1.6) months were included with 31 presenting within the first three months of life. Histopathological review diagnostic categories were; 13 Mesangial proliferative glomerulopathy (MesGN), 12 Focal and segmental glomerulosclerosis (FSGS), 11 Finnish type changes, eight Diffuse Mesangial Sclerosis (DMS), three Minimal change disease (MCD) and one each of Dense Deposit Disease (DDD) and Membranous nephropathy. Two children died from haemorrhagic complications of the biopsy. Eight children achieved remission (four MesGN, one Finnish type changes, one FSGS, one MCD and one membranous) with patient and renal survival of 73 % and 43 %, respectively, at follow-up duration of 5–222 (median 73) months (with five lost to follow-up). All children with Finnish-type histopathological changes presented within five months of age. Due to the historical nature of the cohort, genetic testing was only available for 14 children, nine of whom had an identifiable genetic basis (seven NPHS1, one PLCE1 and one ITGA3) with none of these nine children achieving remission. All of them had presented within four months of age and required renal replacement therapy, and two died.

Conclusions

Histopathological findings are varied in children presenting with NS early in life. Whilst groups of histological patterns of disease are associated with differing outcomes, accurate prediction of disease course in a specific case is difficult and more widespread genetic testing may improve the understanding of this group of diseases and their optimal management

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Title: Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years
Authors: Jameela A. Kari
Giovanni Montini
Detlef Bockenhauer
Eileen Brennan
Lesley Rees
Richard S. Trompeter
Kjell Tullus
William van’t Hoff
Aoife Waters
Emma Ashton
Nicholas Lench
Neil J. Sebire
Stephen D. Marks
Publication date: 01-11-2014
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 11/2014
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-014-2856-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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