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A Novel CLCN5 Mutation Associated With Focal Segmental Glomerulosclerosis and Podocyte Injury
Kidney International Reports, 2018 Tubular dysfunction is characteristic of Dent's disease; however, focal segmental glomerulosclerosis (FSGS) can also be present. Glomerulosclerosis could be secondary to tubular injury, but it remains uncertain whether the CLCN5 gene, which encodes an endosomal chloride and/or hydrogen exchanger, plays a role in podocyte biology.
Ehtesham Arif +2 more
exaly +6 more sources
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Hypercalciuria in patients with CLCN5 mutations
Pediatric Nephrology, 2006Hypercalciuria is regarded as a characteristic symptom of Dent disease, an X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, nephrocalcinosis/nephrolithiasis, and progressive renal failure due to mutations in the CLCN5 gene.
Arend Bokenkamp +2 more
exaly +3 more sources
Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies [PDF]
International Journal of Molecular Sciences, 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 molecular weight proteins.
Mónica Ceol +2 more
exaly +4 more sources
A novel CLCN5 mutation in a Chinese boy with Dent’s disease
World Journal of Pediatrics, 2014Dent's disease is a rare X-linked recessive hereditary disease caused by mutations in either the CLCN5 or OCRL1 genes. This disease is characterized by manifestations of proximal renal tubule dysfunction associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure.We report a ...
Wang Jing-Jing
exaly +3 more sources
CLCN5 gene abnormality in patients with idiopathic tubular proteinuria.
Japanese Journal of Pediatric Nephrology, 1996 Dentらが報告した患者を含む8家系の患者を1990年WrongらはDent病と命名した。1995年ThakkerらはDent病の責任遺伝子CLCN5をクローニングし，翌年Dent病におけるCLCN5の遺伝子異常を解明した。一方，私どもは1994年より本症の臨床症状が1980年に岡田らがわが国で初めてその臨床的特異性を明らかにし独立の疾患であることを提唱した特発性尿細管性蛋白尿症に類似する事を指摘していた。今回私どもは鈴木の暫定的診断基準 (表1) を満たす特発性尿細管性蛋白尿症14家系中10家系 (71%) にクロライドチャンネルN5 (CLCN5) の遺伝子異常 (nonsense mutation 4家系，missense mutation 3家系，frameshift mutation ...
Takeshi Matsuyama
exaly +3 more sources
A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations
Nephron, 2023Introduction: 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 15% of affected individuals have mutations in the OCRL1 gene (Dent 2).
Ali Mollataheri +5 more
openaire +2 more sources
A second family with XLRH displays the mutation S244L in the CLCN5 gene
Human Genetics, 1997Mutations in the CLCN5 gene, mapped in Xp11.22, have been recently reported to be associated with X-linked nephrolithiasis, X-linked recessive hypophosphataemic rickets and Dent's disease. We report a missense mutation in exon 6 of the CLCN5 gene. The mutation in this pedigree is S244L, the same mutation as has previously been described in an Italian ...
C, Oudet +5 more
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Transcriptional adaptation to Clcn5 knockout in proximal tubules of mouse kidney
Physiological Genomics, 2008Dent disease has multiple defects attributed to proximal tubule malfunction including low-molecular-weight proteinuria, aminoaciduria, phosphaturia, and glycosuria. To understand the changes in kidney function of the Clc5 chloride/proton exchanger gene knockout mouse model of Dent disease, we examined gene expression profiles from proximal S1 and S2 ...
Jerry, Wright +11 more
openaire +2 more sources
A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy
Pediatric Nephrology, 2001ClC-5 is a chloride channel whose gene mutations have been reported to be associated with X-linked nephrolithiasis (XRN), X-linked recessive hypophosphatemic rickets (XLRH), Dent disease, and idiopathic low-molecular-weight proteinuria (ILMWP) in Japanese children.
T, Morimoto +6 more
openaire +2 more sources