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Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants [PDF]
Renal FailureObjective This study aims to elucidate the genetic and phenotypic characteristics of pediatric patients with potential Dent disease (DD).Methods High-throughput sequencing was conducted on 11 pediatric patients with potential cases of DD.
Xinyi Jiang +6 more
doaj +2 more sources
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
doaj +2 more sources
Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report [PDF]
Case Reports in Nephrology and DialysisIntroduction: Dent disease (DD) is characterized by a triad of low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis.
Cahyani Gita Ambarsari +3 more
doaj +2 more sources
Zdravniški Vestnik, 2017 Dent disease is an x-linked disorder of proximal renal tubular dysfunction that occurs almost exclusively in males. It is characterized by significant, mostly low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and ...
Rina R Rus, Kristina Vogrin
doaj +1 more source
Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study [PDF]
BMC Medical GenomicsIntroduction Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is complex and ...
Ruijue Zhu +11 more
doaj +2 more sources
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
openaire +5 more sources
Dent Disease Type 1: Still an Under-Recognized Renal Proximal Tubulopathy: A Case Report
Reports, 2022 Dent disease is a rare renal tubular disorder that appears almost exclusively in males. The diagnosis is still challenging, and therefore Dent disease is occasionally misdiagnosed.
Monika Vitkauskaitė +2 more
doaj +1 more source
Nephrology Dialysis Transplantation, 2005 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
Neild, G, Thakker, R, Unwin, R, Wrong, O
openaire +2 more sources
Modeling Dent Disease Type 1 in Flies. [PDF]
Kidney360Anglani F, Priante G.
europepmc +3 more sources
Generation of a human induced pluripotent stem cell line from a patient with dent disease
Stem Cell Research, 2023 Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease.
Xianying Fang +12 more
doaj +1 more source