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

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). METH...

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Autores principales: Kari, Jameela A., Montini, Giovanni, Bockenhauer, Detlef, Brennan, Eileen, Rees, Lesley, Trompeter, Richard S., Tullus, Kjell, van’t Hoff, William, Waters, Aoife, Ashton, Emma, Lench, Nicholas, Sebire, Neil J., Marks, Stephen D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176949/
https://www.ncbi.nlm.nih.gov/pubmed/24902943
http://dx.doi.org/10.1007/s00467-014-2856-x
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author Kari, Jameela A.
Montini, Giovanni
Bockenhauer, Detlef
Brennan, Eileen
Rees, Lesley
Trompeter, Richard S.
Tullus, Kjell
van’t Hoff, William
Waters, Aoife
Ashton, Emma
Lench, Nicholas
Sebire, Neil J.
Marks, Stephen D.
author_facet Kari, Jameela A.
Montini, Giovanni
Bockenhauer, Detlef
Brennan, Eileen
Rees, Lesley
Trompeter, Richard S.
Tullus, Kjell
van’t Hoff, William
Waters, Aoife
Ashton, Emma
Lench, Nicholas
Sebire, Neil J.
Marks, Stephen D.
author_sort Kari, Jameela A.
collection PubMed
description 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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spelling pubmed-41769492014-10-02 Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years Kari, Jameela A. Montini, Giovanni Bockenhauer, Detlef Brennan, Eileen Rees, Lesley Trompeter, Richard S. Tullus, Kjell van’t Hoff, William Waters, Aoife Ashton, Emma Lench, Nicholas Sebire, Neil J. Marks, Stephen D. Pediatr Nephrol Original Article 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 Springer Berlin Heidelberg 2014-06-06 2014 /pmc/articles/PMC4176949/ /pubmed/24902943 http://dx.doi.org/10.1007/s00467-014-2856-x Text en © The Author(s) 2014 https://creativecommons.org/licenses/by/4.0/ Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Original Article
Kari, Jameela A.
Montini, Giovanni
Bockenhauer, Detlef
Brennan, Eileen
Rees, Lesley
Trompeter, Richard S.
Tullus, Kjell
van’t Hoff, William
Waters, Aoife
Ashton, Emma
Lench, Nicholas
Sebire, Neil J.
Marks, Stephen D.
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years
title Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years
title_full Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years
title_fullStr Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years
title_full_unstemmed Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years
title_short Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years
title_sort clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176949/
https://www.ncbi.nlm.nih.gov/pubmed/24902943
http://dx.doi.org/10.1007/s00467-014-2856-x
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