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. 2020 Oct;28(10):1368-1378.
doi: 10.1038/s41431-020-0642-8. Epub 2020 May 28.

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

Beata Stefania Lipska-Ziętkiewicz #  1   2 , Fatih Ozaltin #  3 , Tuula Hölttä  4 , Detlef Bockenhauer  5 , Sandra Bérody  6 , Elena Levtchenko  7 , Marina Vivarelli  8 , Hazel Webb  5 , Dieter Haffner  9   10 , Franz Schaefer  11 , Olivia Boyer  6   12
Affiliations

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

Beata Stefania Lipska-Ziętkiewicz et al. Eur J Hum Genet. 2020 Oct.

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.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1. Algorithm for genetic diagnosis in individuals with congenital nephrotic syndrome.
Asterisk [*]: applicable for populations where founder mutations have already been well described.
See this image and copyright information in PMC

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Publication types

Supplementary concepts