Version 1
: Received: 31 July 2024 / Approved: 1 August 2024 / Online: 1 August 2024 (12:02:03 CEST)
How to cite:
de Combiens, E.; Sakhi, I. B.; Lourdel, S. A Focus on the Metabolic Dysfunction of Proximal Tubule Cells in Dent Disease Type 1. Preprints2024, 2024080048. https://doi.org/10.20944/preprints202408.0048.v1
de Combiens, E.; Sakhi, I. B.; Lourdel, S. A Focus on the Metabolic Dysfunction of Proximal Tubule Cells in Dent Disease Type 1. Preprints 2024, 2024080048. https://doi.org/10.20944/preprints202408.0048.v1
de Combiens, E.; Sakhi, I. B.; Lourdel, S. A Focus on the Metabolic Dysfunction of Proximal Tubule Cells in Dent Disease Type 1. Preprints2024, 2024080048. https://doi.org/10.20944/preprints202408.0048.v1
APA Style
de Combiens, E., Sakhi, I. B., & Lourdel, S. (2024). A Focus on the Metabolic Dysfunction of Proximal Tubule Cells in Dent Disease Type 1. Preprints. https://doi.org/10.20944/preprints202408.0048.v1
Chicago/Turabian Style
de Combiens, E., Imene Bouchra Sakhi and Stéphane Lourdel. 2024 "A Focus on the Metabolic Dysfunction of Proximal Tubule Cells in Dent Disease Type 1" Preprints. https://doi.org/10.20944/preprints202408.0048.v1
Abstract
Dent disease type 1 is a rare 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 proteinuria is commonly observed when ClC-5 is defective. In the context of Dent disease type 1, a proximal tubule dedifferentiation was shown to be accompanied by a dysfunctional cell metabolism. However, the exact mechanisms linking such alterations to chronic kidney disease are still unclear. In this review, we gather knowledge from several Dent disease type 1 models to summarize the current hypotheses generated to understand the progression of this disorder. We also highlight some urinary biomarkers for Dent disease type 1 suggested in different studies.
Keywords
Dent disease type 1; proximal tubule; metabolism; chronic kidney disease
Subject
Medicine and Pharmacology, Anatomy and Physiology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
