Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24184
Abstract: Mutations in the CLCN5 gene encoding the 2Cl−/1H+ exchanger ClC‐5 are associated with Dent disease 1, an inherited renal disorder characterized by low‐molecular‐weight (LMW) proteinuria and hypercalciuria. In the kidney, ClC‐5 is mostly localized in… read more here.
Keywords: proton glutamate; region; patients dent; dent disease ... See more keywords
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon
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DOI: 10.1007/s00439-020-02219-2
Abstract: 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… read more here.
Keywords: genetics; phenotypic heterogeneity; disease; dent disease ... See more keywords
Dent disease: classification, heterogeneity and diagnosis
Sign Up to like & getrecommendations! Published in 2020 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-020-00357-1
Abstract: Background Dent disease is a rare tubulopathy characterized by manifestations of proximal tubular dysfunction, which occurs almost exclusively in males. It mainly presents symptoms in early childhood and may progress to end-stage renal failure between… read more here.
Keywords: classification; heterogeneity diagnosis; dent disease; treatment ... See more keywords
Patients affected by dent disease 2 could be predisposed to hidradenitis suppurativa
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.14860
Abstract: Dent disease 2 (DD2) is a rare X-Linked disorder characterized by proximal tubule dysfunction. It is considered as mild variant of Lowe Syndrome (LS) and both conditions are secondary to OCRL1 gene mutations.1 Mutations in… read more here.
Keywords: affected dent; disease could; dent disease; disease ... See more keywords
Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria
Sign Up to like & getrecommendations! Published in 2018 at "Medical Principles and Practice"
DOI: 10.1159/000490147
Abstract: Objective: Febrile proteinuria is functional proteinuria and is seen as a transitory phenomenon during acute febrile illness, mainly viral infections. It is a benign phenomenon and clears promptly with resolution of the infection. Clinical Presentation… read more here.
Keywords: detection; febrile proteinuria; febrile; dent disease ... See more keywords
A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
Sign Up to like & getrecommendations! Published in 2023 at "Nephron"
DOI: 10.1159/000528344
Abstract: INTRODUCTION Dent's disease is an X-linked inherited renal tubular disorder characterized by proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and end-stage renal disease. Almost 60% of patients have causative mutations in the CLCN5 gene (Dent 1), and… read more here.
Keywords: gene iranian; dent disease; clcn5 gene; iranian patients ... See more keywords
[A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis].
Sign Up to like & getrecommendations! Published in 2023 at "Orvosi hetilap"
DOI: 10.1556/650.2023.32787
Abstract: Dent's disease is a proximal tubulopathy with heterogeneous genetical background. The typical clinical finding is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and progressive chronic kidney failure. The underlying cause of the disease is… read more here.
Keywords: focal segmental; dent disease; disease; segmental glomerular ... See more keywords
Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24021313
Abstract: 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. Nephrin and actin… read more here.
Keywords: dent disease; glomerular damage; clc; rare tubulopathy ... See more keywords