Making a Dent in Dent Disease [PDF]
Function, 2020 Dent disease (DD) is a rare kidney disorder caused by mutations in the Cl−/H+ exchanger ClC-5. Extensive physiologic characterization of the transporter has begun to illuminate its role in endosomal ion homeostasis.
Katherine E Shipman, Ora A Weisz
doaj +5 more sources
Lentiviral vector mediated gene therapy for type I Dent disease ameliorates Dent disease-like phenotypes for three months in ClC-5 null mice [PDF]
Molecular Therapy: Methods & Clinical Development, 2022 Type 1 Dent disease is caused by changes in chloride voltage-gated channel 5 (CLCN5) gene on chromosome X, which causes the lack or dysfunction of chloride channel ClC-5.
Manish Kumar Yadav +3 more
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An overview of Dent disease [PDF]
Childhood Kidney Diseases, 2023 Dent disease is a rare inherited kidney tubulopathy caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes, and which is often underdiagnosed in practice.
Eun Mi Yang, Seong Hwan Chang
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Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report [PDF]
Frontiers in Pediatrics, 2021 Dent disease is a rare genetic disease characterized by low-molecular-weight proteinuria. Dent disease with Bartter-like syndrome is rare and can easily be misdiagnosed and mistreated. Herein, we report a case of Dent disease 1 with Bartter-like syndrome
Qiaoping Chen +4 more
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Dent disease: clinical practice recommendations. [PDF]
Nephrol Dial TransplantABSTRACT Dent disease is a rare X-linked tubulopathy that is characterized by low-molecular-weight proteinuria associated with hypercalciuria, which may lead to nephrolithiasis, nephrocalcinosis, and kidney failure between the third and fifth decades of life in 30%–80% of affected males.
Bökenkamp A +11 more
europepmc +5 more sources
Dent disease manifesting as nephrotic syndrome. [PDF]
Intractable Rare Dis Res, 2023 Dent disease is an X-linked recessive renal tubular disorder, which is mainly caused by mutations of the CLCN5 gene and OCRL gene. It is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis or nephrolithiasis, and progressive renal failure.
Chen Q, Li Y, Wu X.
europepmc +3 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
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
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Database of CLCN5 Pathogenic Variants Causing Dent Disease [PDF]
Kidney International ReportsIntroduction: Dent disease type 1 is an X-linked proximal tubulopathy caused by pathogenic variants in CLCN5, which encodes the chloride/proton exchanger, ClC-5.
Pin Lyu +7 more
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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
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