Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group
Year: 2020
Type: article
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.
Institutions: Gdańsk Medical University, Hacettepe University, Helsinki University Hospital, Helsinki Children's Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, University College London, Hôpital Necker-Enfants Malades, Assistance Publique – Hôpitaux de Paris, Universitair Ziekenhuis Leuven, KU Leuven, Bambino Gesù Children's Hospital, Fondazione Bambino Gesù, Medizinische Hochschule Hannover, Heidelberg University, Inserm, Institut des Maladies Génétiques Imagine, Université Paris Descartes
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $3,000
Awards: G6533600717, G8926624794
OpenAlex ID: W3032284771