Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon. [PDF]
Hum Genet, 2021 Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-molecular-weight ...
Gianesello L +3 more
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Hemizygous loss of function mutations in CLCN5 causing end-stage kidney disease without Dent disease phenotype. [PDF]
Clin Kidney J, 2023 Dent disease type 1 is suspected in the presence of a complete phenotype of low molecular weight (LMW) proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, nephrolithiasis, haematuria, hypophosphatemia or chronic kidney ...
Leggatt G +5 more
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J Am Soc Nephrol, 2023 Significance Statement Loss of function of the 2Cl−/H+ antiporter ClC-5 in Dent disease causes an unknown impairment in endocytic traffic, leading to tubular proteinuria.
Shipman KE +10 more
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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
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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
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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
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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
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Orphanet Journal of Rare Diseases, 2010 Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show
Devuyst, O
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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
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Modeling Dent Disease Type 1 in Flies. [PDF]
Kidney360Anglani F, Priante G.
europepmc +3 more sources