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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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
doaj +3 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 +3 more sources
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
doaj +3 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 +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Srpski arhiv za celokupno lekarstvo, 2008 INTRODUCTION. Dent disease is X-linked recessive proximal tubulopathy, due to mutations in the CLCN5 gene. It is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and progressive renal failure. CASE OUTLINE.
Snezana Pavicevic +3 more
openaire +2 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