Article
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Human mutation - 1 Aug 2015
Mansour-Hendili Lamisse, Blanchard Anne, Le Pottier Nelly, Roncelin Isabelle, Lourdel Stéphane, Treard Cyrielle, González Wendy, Vergara-Jaque Ariela, Morin Gilles, Colin Estelle, Holder-Espinasse Muriel, Bacchetta Justine, Baudouin Véronique, Benoit Stéphane, Bérard Etienne, Bourdat-Michel Guylhène, Bouchireb Karim, Burtey Stéphane, Cailliez Mathilde, Cardon Gérard, Cartery Claire, Champion Gerard, Chauveau Dominique, Cochat Pierre, Dahan Karin, De la Faille Renaud, Debray François-Guillaume, Dehoux Laurenne, Deschenes Georges, Desport Estelle, Devuyst Olivier, Dieguez Stella, Emma Francesco, Fischbach Michel, Fouque Denis, Fourcade Jacques, François Hélène, Gilbert-Dussardier Brigitte, Hannedouche Thierry, Houillier Pascal, Izzedine Hassan, Janner Marco, Karras Alexandre, Knebelmann Bertrand, Lavocat Marie-Pierre, Lemoine Sandrine, Leroy Valérie, Loirat Chantal, Macher Marie-Alice, Martin-Coignard Dominique, Morin Denis, Niaudet Patrick, Nivet Hubert, Nobili François, Novo Robert, Faivre Laurence, Rigothier Claire, Roussey-Kesler Gwenaëlle, Salomon Remi, Schleich Andreas, Sellier-Leclerc Anne-Laure, Soulami Kenza, Tiple Aurélien, Ulinski Tim, Vanhille Philippe, Van Regemorter Nicole, Jeunemaître Xavier, Vargas-Poussou Rosa
Abstract excerpt
Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal tubule dysfunctions. It often progresses over a few decades to chronic renal insufficiency, and therefore molecular characterization is important to allow appropriate genetic counseling. Two...
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