Results 41 to 50 of about 1,469 (156)
CLCN5 gene abnormality in patients with idiopathic tubular proteinuria.
Nihon Shoni Jinzobyo Gakkai Zasshi, 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 ...
Takashi Igarashi +8 more
openaire +2 more sources
Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports
Frontiers in Medicine, 2018 Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis,
Min Wen +10 more
doaj +1 more source
Hyperthermia in the course of tetany in a child with Dent’s disease – case report
Pediatria Polska, 2023 Tetany is a condition in which serum electrolyte disturbances lead to increased neuronal excitability. We describe a case of life-threatening tetany in a 2.5-year-old boy with Dent’s disease linked with the CLCN5 gene.
Beata Banaszak +3 more
doaj +1 more source
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 +1 more source
Nefrología (English Edition), 2023 Background and objectives: Dent's disease type 1 (DD1) is a rare X-linked hereditary pathology caused by CLCN5 mutations that is characterized mainly by proximal tubule dysfunction, hypercalciuria, nephrolithiasis/nephrocalcinosis, progressive chronic ...
Carla Burballa +5 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2010 Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure.
Thakker Rajesh V, Devuyst Olivier
doaj +1 more source
BMC Research Notes, 2017 Background Dent disease-1 is a rare X-linked recessive renal tubular disorder caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene.
Randula Ranawaka +6 more
doaj +1 more source
Generation of a human induced pluripotent stem cell line from a patient with dent disease
Stem Cell Research, 2023 Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease.
Xianying Fang +12 more
doaj +1 more source
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 +1 more source
Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate
Journal of Lipid Research, 2014 Sphingosine-1-phosphate (S1P) mediates several cytoprotective functions of HDL. apoM acts as a S1P binding protein in HDL. Erythrocytes are the major source of S1P in plasma. After glomerular filtration, apoM is endocytosed in the proximal renal tubules.
Iryna Sutter +7 more
doaj +1 more source