TY - JOUR
T1 - Genetic aspects of congenital nephrotic syndrome
T2 - a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group
AU - Lipska-Ziętkiewicz, Beata Stefania
AU - Ozaltin, Fatih
AU - Hölttä, Tuula
AU - Bockenhauer, Detlef
AU - Bérody, Sandra
AU - Levtchenko, Elena
AU - Vivarelli, Marina
AU - Webb, Hazel
AU - Haffner, Dieter
AU - Schaefer, Franz
AU - Boyer, Olivia
N1 - Funding Information:
Acknowledgements The authors gratefully acknowledge the support by the hereditary glomerulopathy working group of ERKNet, the European Reference Network for Rare Kidney Diseases, and the working group for inherited kidney disease of ESPN, the ESPN. We are indebted to Tanja Wlodkowski and Giulia Bassanese from the ERKNet Central Office, who performed the systematic literature search and evidence review that formed the basis of this document. Open Access Funding provided by Projekt DEAL.
Funding Information:
Funding The development of this consensus statement was made possible by a 5000 € grant from ERKNet, the European Reference Network for Rare Kidney Diseases. ERKNet is co-funded by the European Union within the framework of the Third Health Program “ERN-2016—Framework Partnership Agreement 2017–2021”. The funder took no influence on the contents of the document.
Publisher Copyright:
© 2020, The Author(s).
PY - 2020/10/1
Y1 - 2020/10/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85085508985
U2 - 10.1038/s41431-020-0642-8
DO - 10.1038/s41431-020-0642-8
M3 - Article
C2 - 32467597
SN - 1018-4813
VL - 28
SP - 1368
EP - 1378
JO - European journal of human genetics
JF - European journal of human genetics
IS - 10
ER -