Genetic Aspects of Congenital Nephrotic Syndrome: a Consensus Statement from the ERKNet-ESPN Inherited Glomerulopathy Working Group

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2020 May 30

PMID 32467597

Citations 14

Authors

Beata Stefania Lipska-Zietkiewicz

Fatih Ozaltin

Tuula Holtta

Detlef Bockenhauer

Sandra Berody

Elena Levtchenko

Marina Vivarelli

Hazel Webb

Dieter Haffner

Franz Schaefer

Olivia Boyer

Affiliations

Soon will be listed here.

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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