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Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.

Authors
  • Dorval, Guillaume1, 2
  • Gribouval, Olivier3, 4
  • Martinez-Barquero, Vanesa3, 4
  • Machuca, Eduardo3
  • Tête, Marie-Josèphe3, 4
  • Baudouin, Véronique5
  • Benoit, Stéphane6
  • Chabchoub, Imen7
  • Champion, Gérard8
  • Chauveau, Dominique9
  • Chehade, Hassib10
  • Chouchane, Chokri11
  • Cloarec, Sylvie6
  • Cochat, Pierre12
  • Dahan, Karin13
  • Dantal, Jacques14
  • Delmas, Yahsou15
  • Deschênes, Georges5
  • Dolhem, Phillippe16
  • Durand, Dominique9
  • And 30 more
  • 1 INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. [email protected] , (France)
  • 2 Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. [email protected] , (France)
  • 3 INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France. , (France)
  • 4 Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. , (France)
  • 5 Department of Pediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paris, France. , (France)
  • 6 Department of Nephrology, University Hospital of Tours, Tours, France. , (France)
  • 7 Department of Pediatrics, Sfax University, Sfax, Tunisia. , (Tunisia)
  • 8 Department of Pediatrics, University Hospital of Angers, Angers, France. , (France)
  • 9 Department of Nephrology and Organ Transplantation, University Hospital Rangueil, Toulouse, France. , (France)
  • 10 Department of Pediatrics, Division of Pediatric Nephrology, Lausanne University Hospital, Lausanne, Switzerland. , (Switzerland)
  • 11 Department of Pediatrics, Monastir University, Monastir, Tunisia. , (Tunisia)
  • 12 Department of Pediatric Nephrology, Claude-Bernard Lyon 1 University, Bron, France. , (France)
  • 13 Department of Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium. , (Belgium)
  • 14 Nephrology and Immunology Department, University Hospital of Nantes, Nantes, France. , (France)
  • 15 Department of Nephrology, University Hospital of Bordeaux, Bordeaux, France. , (France)
  • 16 Department of Pediatrics, Saint-Quentin Hospital, Saint-Quentin, France. , (France)
  • 17 Kocaeli Academy for Solidarity, Kocaeli, Turkey. , (Turkey)
  • 18 Department of Nephrology, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France. , (France)
  • 19 Nephrology Dialysis Transplantation Children's Unit, University Hospital Hautepierre, Strasbourg, France. , (France)
  • 20 Department of Pediatrics, University Hospital of Limoges, Limoges, France. , (France)
  • 21 Department of Pediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Armand Trousseau Hospital, Paris, France. , (France)
  • 22 Department of Nephrology, University Hospital Hautepierre, Strasbourg, France. , (France)
  • 23 Department of Genetics, University Hospital of Bordeaux, Bordeaux, France. , (France)
  • 24 Department of Pediatrics, University Hospital of Bordeaux, Bordeaux, France. , (France)
  • 25 Department of Nephrology and Dialysis, Assistance Publique-Hôpitaux de Paris, Tenon Hospital, Paris, France. , (France)
  • 26 Sorbonne University, UPMC University Paris 06, Paris, France. , (France)
  • 27 INSERM, UMR_S 1155, 75020, Paris, France. , (France)
  • 28 College of Medicine, Sultan Qaboos University, Muscat, Oman. , (Oman)
  • 29 Department of Pediatric Nephrology, Centre de référence du syndrome néphrotique idiopathique de l'enfant et l'adulte, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France. , (France)
  • 30 Centre de Référence Syndrome Néphrotique Idiopathique de l'enfant et de l'adulte, Paris, France. , (France)
  • 31 Department of Pediatrics, Division of Pediatric Nephrology, Geneva University Hospital, Geneva, Switzerland. , (Switzerland)
  • 32 Departement of Pediatrics, Nephrology Unit, University Hospital of Reims, Reims, France. , (France)
  • 33 Faculty of Medicine, Laboratory of Biochemistry and Molecular Biology, UMR, CNRS/URCA n°7369, University of Champagne-Ardenne, Reims, France. , (France)
  • 34 Department of Pediatrics, Assistance Publique-Hôpitaux de Paris, Jean Verdier Hospital, Bondy, France. , (France)
  • 35 Department of Nephrology and Transplantation, University Hospital of Lyon, Lyon, France. , (France)
  • 36 Department of Nephrology and Kidney Transplantation, The Conception Hospital, Marseille, France. , (France)
  • 37 Department of Multidisciplinary Pediatrics Timone, Assistance Publique Hôpitaux de Marseille, Aix-Marseille University, Marseille, France. , (France)
  • 38 Department of Genetics, Assistance Publique-Hôpitaux de Paris, Necker-Enfants malades Hospital, Paris, France. , (France)
Type
Published Article
Journal
Pediatric Nephrology
Publisher
Springer-Verlag
Publication Date
Mar 01, 2018
Volume
33
Issue
3
Pages
473–483
Identifiers
DOI: 10.1007/s00467-017-3819-9
PMID: 29058154
Source
Medline
Keywords
License
Unknown

Abstract

Taken together, these results highlight the clinical and genetic heterogeneity in familial SSNS. Clinical findings sustain an immune origin in all patients, whatever the initial steroid-sensitivity. The absence of a variant shared by two families and the HLA-DQA1 variation enrichments suggest a complex mode of inheritance.

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