A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report [PDF]
Frontiers in Pediatrics, 2022 BackgroundDent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure.Case presentationHere we ...
Jiajia Ni +6 more
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Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1 [PDF]
Frontiers in PediatricsDent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney function and is caused by pathogenic variants in CLCN5.
Nicolette Murphey +4 more
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Small molecules restore the function of mutant CLC5 associated with Dent disease. [PDF]
J Cell Mol Med, 2021 Dent disease type 1 is caused by mutations in the CLCN5 gene that encodes CLC5, a 2Cl−/H+ exchanger. The CLC5 mutants that have been functionally analysed constitute three major classes based on protein expression, cellular localization and channel ...
Liu J +5 more
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Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease [PDF]
Italian Journal of PediatricsBackground A prominent feature of Dent disease (DD) is the progressive decline in renal function, with 30% - 80% of male patients advancing to end-stage renal disease between the ages of 30 and 50 years.
Lanqi Zhou +7 more
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Observations of a large Dent disease cohort. [PDF]
Kidney International, 2016 Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and hypokalemia have been rarely reported. It is unknown whether the changes in phenotype observed over time are explained by a decrease in glomerular filtration rate (GFR) or ...
A. Blanchard +27 more
semanticscholar +5 more sources
Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies. [PDF]
Int J Mol Sci, 2020 Dent disease (DD), an X-linked renal tubulopathy, is mainly caused by loss-of-function mutations in CLCN5 (DD1) and OCRL genes. CLCN5 encodes the ClC-5 antiporter that in proximal tubules (PT) participates in the receptor-mediated endocytosis of low ...
Gianesello L +14 more
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Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1. [PDF]
Clin Exp Nephrol, 2020 In recent years, the elucidation of splicing abnormalities as a cause of hereditary diseases has progressed. However, there are no comprehensive reports of suspected splicing variants in the CLCN5 gene in Dent disease cases.
Inoue T +13 more
europepmc +2 more sources
Evidence for genetic heterogeneity in Dent's disease [PDF]
Kidney International, 2004 Dent's disease (X-linked nephrolithiasis) is a proximal tubulopathy that has been consistently associated with inactivating mutations in the CLCN5 gene encoding the ClC-5 chloride channel expressed in tubular epithelial cells.We performed mutation analysis of the coding region of CLCN5 by DNA sequencing in 32 unrelated males, all of whom met the ...
Hoopes, Richard R. +6 more
openaire +4 more sources
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
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
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