Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome? [PDF]
Genes (Basel), 2021 Dent disease is a rare X-linked renal tubulopathy due to CLCN5 and OCRL (DD2) mutations. OCRL mutations also cause Lowe syndrome (LS) involving the eyes, brain and kidney. DD2 is frequently described as a mild form of LS because some patients may present
Gianesello L +7 more
europepmc +2 more sources
A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1. [PDF]
Genes (Basel)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−/
de Combiens E, Sakhi IB, Lourdel S.
europepmc +2 more sources
A female patient with Dent disease due to skewed X-chromosome inactivation. [PDF]
Clin Kidney JX-linked proximal tubulopathies are rare diseases that predominantly affect men. Women are generally carriers and clinical or biochemical manifestations are usually absent or mild.
D'Ambrosio V +4 more
europepmc +2 more sources
Gene therapy of Dent disease type 1 in newborn ClC-5 null mice for sustained transgene expression and gene therapy effects. [PDF]
Gene TherDent disease type 1 is caused by changes in the chloride voltage-gated channel 5 (CLCN5) gene on chromosome X, resulting in the lack or dysfunction of chloride channel ClC-5. Individuals affected by Dent disease type 1 show proteinuria and hypercalciuria.
Lyu P +6 more
europepmc +2 more sources
Drosophila ClC-c Is a Homolog of Human CLC-5 and a New Model for Dent Disease Type 1. [PDF]
Kidney360Visual Abstract Key Points Drosophila can be a model for Dent Disease type 1. Drosophila Clc-C mutations function similar to human CLC-5 Dent 1 mutations.
Reynolds CJ +7 more
europepmc +2 more sources
Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency [PDF]
American Journal of Ophthalmology Case Reports, 2023 Purpose: To report a unique case of Dent Disease presenting with nyctalopia associated with vitamin A deficiency and abnormal electroretinogram findings without prior systemic symptomatology.
Justin J. Arnett +7 more
doaj +2 more sources
Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease [PDF]
Biomedicines, 2023 Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Glorián Mura-Escorche +4 more
doaj +2 more sources
Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function. [PDF]
Hum Mol Genet, 2021 Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressing to chronic kidney disease. Although mutations
Durán M +7 more
europepmc +2 more sources
Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review [PDF]
Journal of International Medical ResearchDent disease is a rare disease with proximal renal tubular dysfunction, and is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Renal failure slowly progresses and end-stage
Youying Mao +4 more
doaj +2 more sources
From protein uptake to Dent disease: An overview of the CLCN5 gene. [PDF]
Gene, 2020 Proteinuria is a well-known risk factor, not only for renal disorders, but also for several other problems such as cardiovascular diseases and overall mortality.
Gianesello L +5 more
europepmc +2 more sources