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
doaj +2 more sources
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2 [PDF]
Pediatric Nephrology, 2020 Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5 (Dent disease 1) and OCRL (Dent disease 2). It is generally not accompanied by extrarenal manifestations and it is difficult to distinguish Dent disease 1 from Dent disease 2 without gene testing.
Tomohiko Yamamura +2 more
exaly +3 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
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
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
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 ...
Stephen J Knohl
exaly +3 more sources
Proteinuria in Dent disease: a review of the literature [PDF]
Pediatric Nephrology, 2016 Dent disease is a rare X-linked recessive proximal tubulopathy caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2). As a rule, total protein excretion (TPE) is low in tubular proteinuria compared with glomerular disease. Several authors have reported nephrotic-range proteinuria (NP) and glomerulosclerosis in Dent disease.
Arend Bokenkamp +2 more
exaly +3 more sources
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 +2 more sources
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 ...
Xavier Jeunemaitre +2 more
exaly +4 more sources