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

Show full item record



Permalink

http://hdl.handle.net/10138/320780

Citation

Lipska-Zietkiewicz , B S , Ozaltin , F , Hölttä , T , Bockenhauer , D , Berody , S , Levtchenko , E , Vivarelli , M , Webb , H , Haffner , D , Schaefer , F & Boyer , O 2020 , ' Genetic aspects of congenital nephrotic syndrome : a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group ' , European Journal of Human Genetics , vol. 28 , no. 10 , pp. 1368-1378 . https://doi.org/10.1038/s41431-020-0642-8

Title: Genetic aspects of congenital nephrotic syndrome : a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group
Author: Lipska-Zietkiewicz, Beata Stefania; Ozaltin, Fatih; Hölttä, Tuula; Bockenhauer, Detlef; Berody, Sandra; Levtchenko, Elena; Vivarelli, Marina; Webb, Hazel; Haffner, Dieter; Schaefer, Franz; Boyer, Olivia
Other contributor: University of Helsinki, HUS Children and Adolescents


Date: 2020-10
Language: eng
Number of pages: 11
Belongs to series: European Journal of Human Genetics
ISSN: 1018-4813
DOI: https://doi.org/10.1038/s41431-020-0642-8
URI: http://hdl.handle.net/10138/320780
Abstract: 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.
Subject: STEROID-RESISTANT
FINNISH TYPE
MUTATIONS
NPHS1
WT1
CHILDREN
SPECTRUM
WDR73
NEPHROPATHY
DYSFUNCTION
1184 Genetics, developmental biology, physiology
3123 Gynaecology and paediatrics
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
s41431_020_0642_8.pdf 656.5Kb PDF View/Open

This item appears in the following Collection(s)

Show full item record