Carla Burballa, Gerard Cantero-Recasens, Larisa Prikhodina, Francesca Lugani, Karlpeter Schlingmann, Petr V Ananin, Martine Besouw, Detlef Bockenhauer, Leire Madariaga, Aurelia Bertholet-Thomas, Francesca Taroni, Mattia Parolin, Peter Conlon, Dorella Delprete, Dominique Chauveau, Linda Koster-Kamphuis, Marc Fila, Andrea Pasini, Isabel Castro, Giacomo Colussi, Marta Gil, Barian Mohidin, Tanja Wlodkowski, Franz Schaefer, Gema Ariceta
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) and kidney failure (KF). Current management is symptomatic and does not prevent disease progression. Here we describe the contemporary DD1 picture across Europe to highlight its unmet needs. METHODS: A physician-based anonymous international e-survey supported by several European Nephrology Networks/Societies was conducted...
November 28, 2022: Nephrology, Dialysis, Transplantation