1. A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1.
- Author
-
de Combiens E, Sakhi IB, and Lourdel S
- Subjects
- Humans, Animals, Genetic Diseases, X-Linked genetics, Genetic Diseases, X-Linked pathology, Genetic Diseases, X-Linked physiopathology, Mutation, Biomarkers urine, Nephrolithiasis, Kidney Tubules, Proximal metabolism, Kidney Tubules, Proximal pathology, Kidney Tubules, Proximal physiopathology, Chloride Channels genetics, Chloride Channels metabolism
- Abstract
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 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.- Published
- 2024
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