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


Lipska-Zietkiewicz B. S. , ÖZALTIN F. , Holtta T., Bockenhauer D., Berody S., Levtchenko E., ...More

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.28, no.10, pp.1368-1378, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 10
  • Publication Date: 2020
  • Doi Number: 10.1038/s41431-020-0642-8
  • Title of Journal : EUROPEAN JOURNAL OF HUMAN GENETICS
  • Page Numbers: pp.1368-1378

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.