Clinical and genetic characteristics of Dent's disease type 1 in Europe

ABSTRACT Background Dent's disease type 1 (DD1) is a rare X-linked nephropathy caused by CLCN5 mutations, characterized by proximal tubule dysfunction, including low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis–nephrocalcinosis, progressive chronic kidney disease (CKD) a...

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Veröffentlicht in:	Nephrology, dialysis, transplantation dialysis, transplantation, 2023-05, Vol.38 (6), p.1497-1507
Hauptverfasser:	Burballa, Carla, Cantero-Recasens, Gerard, Prikhodina, Larisa, Lugani, Francesca, Schlingmann, Karlpeter, Ananin, Petr V, Besouw, Martine, Bockenhauer, Detlef, Madariaga, Leire, Bertholet-Thomas, Aurelia, Taroni, Francesca, Parolin, Mattia, Conlon, Peter, Emma, Francesco, Del Prete, Dorella, Chauveau, Dominique, Koster-Kamphuis, Linda, Fila, Marc, Pasini, Andrea, Castro, Isabel, Colussi, Giacomo, Gil, Marta, Mohidin, Barian, Wlodkowski, Tanja, Schaefer, Franz, Ariceta, Gema
Format:	Artikel
Sprache:	eng
Schlagworte:	Chloride Channels - genetics Dent Disease - diagnosis Dent Disease - genetics Europe - epidemiology Humans Hypercalciuria - epidemiology Hypercalciuria - genetics Kidney Calculi Male Mutation Nephrocalcinosis - etiology Nephrocalcinosis - genetics Proteinuria - genetics Renal Insufficiency Renal Insufficiency, Chronic - etiology Renal Insufficiency, Chronic - genetics
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