Article
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Mar 2018
Dorval Guillaume, Gribouval Olivier, Martinez-Barquero Vanesa, Machuca Eduardo, Tête Marie-Josèphe, Baudouin Véronique, Benoit Stéphane, Chabchoub Imen, Champion Gérard, Chauveau Dominique, Chehade Hassib, Chouchane Chokri, Cloarec Sylvie, Cochat Pierre, Dahan Karin, Dantal Jacques, Delmas Yahsou, Deschênes Georges, Dolhem Phillippe, Durand Dominique, Ekinci Zelal, El Karoui Khalil, Fischbach Michel, Grunfeld Jean-Pierre, Guigonis Vincent, Hachicha Mongia, Hogan Julien, Hourmant Maryvonne, Hummel Aurélie, Kamar Nassim, Krummel Thierry, Lacombe Didier, Llanas Brigitte, Mesnard Laurent, Mohsin Nabil, Niaudet Patrick, Nivet Hubert, Parvex Paloma, Pietrement Christine, de Pontual Loic, Noble Claire Pouteil, Ribes David, Ronco Pierre, Rondeau Eric, Sallee Marion, Tsimaratos Michel, Ulinski Tim, Salomon Rémi, Antignac Corinne, Boyer Olivia
Abstract excerpt
BACKGROUND: Familial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations in the EMP2 gene were identified, and specific variations in HLA-DQA1 were linked to a high risk of developing the disease. METHODS: Clinical data were analyzed in 59 SSNS families. EMP2 gene was sequenced in families with a potential autosomal recessive...
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