Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group

Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders presenting with massive proteinuria within the first 3 months of life almost inevitably leading to end-stage kidney disease. The Work Group for the European Reference Network for Kidney Diseases (ERKNet) and the European Socie...

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Autores principales: Lipska-Ziętkiewicz, Beata Stefania, Ozaltin, Fatih, Hölttä, Tuula, Bockenhauer, Detlef, Bérody, Sandra, Levtchenko, Elena, Vivarelli, Marina, Webb, Hazel, Haffner, Dieter, Schaefer, Franz, Boyer, Olivia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608398/
https://www.ncbi.nlm.nih.gov/pubmed/32467597
http://dx.doi.org/10.1038/s41431-020-0642-8
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author Lipska-Ziętkiewicz, Beata Stefania
Ozaltin, Fatih
Hölttä, Tuula
Bockenhauer, Detlef
Bérody, Sandra
Levtchenko, Elena
Vivarelli, Marina
Webb, Hazel
Haffner, Dieter
Schaefer, Franz
Boyer, Olivia
author_facet Lipska-Ziętkiewicz, Beata Stefania
Ozaltin, Fatih
Hölttä, Tuula
Bockenhauer, Detlef
Bérody, Sandra
Levtchenko, Elena
Vivarelli, Marina
Webb, Hazel
Haffner, Dieter
Schaefer, Franz
Boyer, Olivia
author_sort Lipska-Ziętkiewicz, Beata Stefania
collection PubMed
description Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders presenting with massive proteinuria within the first 3 months of life almost inevitably leading to end-stage kidney disease. The Work Group for the European Reference Network for Kidney Diseases (ERKNet) and the European Society for Pediatric Nephrology (ESPN) has developed consensus statement on genetic aspects of CNS diagnosis and management. The presented expert opinion recommends genetic diagnostics as the key diagnostic test to be ordered already during the initial evaluation of the patient, discusses which phenotyping workup should be performed and presents known genotype–phenotype correlations.
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spelling pubmed-76083982020-11-05 Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group Lipska-Ziętkiewicz, Beata Stefania Ozaltin, Fatih Hölttä, Tuula Bockenhauer, Detlef Bérody, Sandra Levtchenko, Elena Vivarelli, Marina Webb, Hazel Haffner, Dieter Schaefer, Franz Boyer, Olivia Eur J Hum Genet Article Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders presenting with massive proteinuria within the first 3 months of life almost inevitably leading to end-stage kidney disease. The Work Group for the European Reference Network for Kidney Diseases (ERKNet) and the European Society for Pediatric Nephrology (ESPN) has developed consensus statement on genetic aspects of CNS diagnosis and management. The presented expert opinion recommends genetic diagnostics as the key diagnostic test to be ordered already during the initial evaluation of the patient, discusses which phenotyping workup should be performed and presents known genotype–phenotype correlations. Springer International Publishing 2020-05-28 2020-10 /pmc/articles/PMC7608398/ /pubmed/32467597 http://dx.doi.org/10.1038/s41431-020-0642-8 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Lipska-Ziętkiewicz, Beata Stefania
Ozaltin, Fatih
Hölttä, Tuula
Bockenhauer, Detlef
Bérody, Sandra
Levtchenko, Elena
Vivarelli, Marina
Webb, Hazel
Haffner, Dieter
Schaefer, Franz
Boyer, Olivia
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group
title Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group
title_full Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group
title_fullStr Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group
title_full_unstemmed Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group
title_short Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group
title_sort genetic aspects of congenital nephrotic syndrome: a consensus statement from the erknet–espn inherited glomerulopathy working group
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608398/
https://www.ncbi.nlm.nih.gov/pubmed/32467597
http://dx.doi.org/10.1038/s41431-020-0642-8
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