Title Clinical and genetic characteristics of Dent's Disease type 1 in Europe /
Authors 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 ; Delprete, Dorella ; Chauveau, Dominique ; Koster-Kamphuis, Linda ; Fila, Marc ; Pasini, Andrea ; Castro, Isabel ; Colussi, Giacomo ; Gil, Marta ; Mohidin, Barian ; Wlodkowski, Tanja ; Schaefer, Franz ; Ariceta, Gema
DOI 10.1093/ndt/gfac310
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Is Part of Nephrology dialysis transplantation.. Oxford : Oxford University Press. 2023, vol. 38, iss. 6, p. 1497-1507.. ISSN 0931-0509. eISSN 1460-2385
Keywords [eng] CLCN5 gene ; Dent’s disease 1 (DD1) ; low-molecular-weight-proteinuria ; nephrocalcinosis ; tubulopathy
Abstract [eng] 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.
Published Oxford : Oxford University Press
Type Journal article
Language English
Publication date 2023