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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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Hauptverfasser: Lipska-Ziętkiewicz, Beata S. (VerfasserIn) , Ozaltin, Fatih (VerfasserIn) , Hölttä, Tuula (VerfasserIn) , Bockenhauer, Detlef (VerfasserIn) , Bérody, Sandra (VerfasserIn) , Levtchenko, Elena (VerfasserIn) , Vivarelli, Marina (VerfasserIn) , Webb, Hazel (VerfasserIn) , Haffner, Dieter (VerfasserIn) , Schaefer, Franz (VerfasserIn) , Boyer, Olivia (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 28 May 2020
In: European journal of human genetics
Year: 2020, Jahrgang: 28, Heft: 10, Pages: 1368-1378
ISSN:1476-5438
DOI:10.1038/s41431-020-0642-8
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41431-020-0642-8
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41431-020-0642-8
Volltext
Verfasserangaben:Beata Stefania Lipska-Ziętkiewicz, Fatih Ozaltin, Tuula Hölttä, Detlef Bockenhauer, Sandra Bérody, Elena Levtchenko, Marina Vivarelli, Hazel Webb, Dieter Haffner, Franz Schaefer, Olivia Boyer
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 02.09.2021
Beschreibung:Online Resource
ISSN:1476-5438
DOI:10.1038/s41431-020-0642-8

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