Dent disease: clinical practice recommendations. [PDF]
Nephrol Dial TransplantDent disease is a rare X-linked tubulopathy that is characterized by low-molecular-weight proteinuria associated with hypercalciuria, which may lead to nephrolithiasis, nephrocalcinosis, and kidney failure between the third and fifth decades of life in ...
Bökenkamp A +11 more
europepmc +7 more sources
Dent disease: A window into calcium and phosphate transport. [PDF]
J Cell Mol Med, 2019 This review examines calcium and phosphate transport in the kidney through the lens of the rare X‐linked genetic disorder Dent disease. Dent disease type 1 (DD1) is caused by mutations in the CLCN5 gene encoding ClC‐5, a Cl−/H+ antiporter localized to ...
Anglani F +3 more
europepmc +4 more sources
The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype. [PDF]
Kidney Int Rep, 2023 Introduction Dent disease is an X-linked recessive disorder associated with low molecular weight proteinuria (LMWP), nephrocalcinosis, kidney stones, and kidney failure in the third to fifth decade of life.
Arnous MG +7 more
europepmc +2 more sources
Impaired Endosome Maturation Mediates Tubular Proteinuria in Dent Disease Cell Culture and Mouse Models. [PDF]
J Am Soc Nephrol, 2023 Significance Statement Loss of function of the 2Cl−/H+ antiporter ClC-5 in Dent disease causes an unknown impairment in endocytic traffic, leading to tubular proteinuria.
Shipman KE +10 more
europepmc +2 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
Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction? [PDF]
Int J Mol Sci, 2023 Dent disease (DD1) is a rare tubulopathy caused by mutations in the CLCN5 gene. Glomerulosclerosis was recently reported in DD1 patients and ClC-5 protein was shown to be expressed in human podocytes.
Priante G +7 more
europepmc +2 more sources
Dent Disease Type 1: A Diagnostic Dilemma and Review. [PDF]
Cureus, 2022 This case report describes a boy with a rare genetic disease that primarily affects the kidneys and has implications on growth and development. Dent disease type 1 is an X-linked tubulopathy mainly caused by inactivating mutations in the chloride voltage-
Soares RB, Bhat N.
europepmc +2 more sources
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon. [PDF]
Hum Genet, 2021 Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-molecular-weight ...
Gianesello L +3 more
europepmc +2 more sources
Hemizygous loss of function mutations in CLCN5 causing end-stage kidney disease without Dent disease phenotype. [PDF]
Clin Kidney J, 2023 Dent disease type 1 is suspected in the presence of a complete phenotype of low molecular weight (LMW) proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, nephrolithiasis, haematuria, hypophosphatemia or chronic kidney ...
Leggatt G +5 more
europepmc +2 more sources
Srpski arhiv za celokupno lekarstvo, 2020 The most frequent sign of Dent disease is the presence of an abnormally large amount of proteins in the urine (tubular proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (
Subhan Iqbal
semanticscholar +5 more sources