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

doi:10.1093/ndt/gfac310

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

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 31 May 2023

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

Abstract excerpt

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...

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PMID: 36441012
DOI: 10.1093/ndt/gfac310

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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