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 +6 more sources
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
doaj +3 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 ...
Chen Q, Li Y, Wu X.
europepmc +4 more sources
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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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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Clinical features and genetic analysis of 15 Chinese children with dent disease [PDF]
Renal FailureObjective The clinical characteristics, genetic mutation spectrum, treatment strategies and prognoses of 15 children with Dent disease were retrospectively analyzed to improve pediatricians’ awareness of and attention to this disease.Methods We ...
Qian Li +8 more
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Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome [PDF]
BMC Nephrology, 2021 Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent ...
Nan Duan +5 more
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Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background To characterize the phenotypic spectrum and assess the antialbuminuric response to angiotensin converting enzyme (ACE) inhibitor and/or angiotensin receptor blocker (ARB) therapy in a cohort of children with Dent disease. Methods The patients’
Haiyue Deng +11 more
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Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report [PDF]
Frontiers in Pediatrics, 2020 Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure ...
Martin Bezdíčka +3 more
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Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq) [PDF]
BMC Nephrology, 2020 Background Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before.
Yuhong Ye +6 more
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