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Article

A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1.

Genes - 7 Sept 2024

de Combiens Elise, Sakhi Imene Bouchra, Lourdel Stéphane

Abstract excerpt

Dent disease type 1 is a rare X-linked recessive inherited renal disorder affecting mainly young males, generally leading to end-stage renal failure and for which there is no cure. It is caused by inactivating mutations in the gene encoding ClC-5, a 2Cl-/H+ exchanger found on endosomes in the renal proximal tubule. This transporter participates in reabsorbing all filtered plasma proteins, which justifies why...

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Identifiers

PMID: 39336766
DOI: 10.3390/genes15091175
PMCID: PMC11431675

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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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