Results 41 to 50 of about 1,497 (161)
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
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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
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
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Two brothers with identical variants of the CLCN5 gene—one developing Dent’s disease [PDF]
Clinical Kidney Journal, 2017 Dent's disease is characterized by manifestations of proximal tubule dysfunction including hypercalciuria, kidney stones, proteinuria, rickets and progressively declining kidney function. The diagnosis is based on the presence of low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones ...
Fischer, Anne Sophie +3 more
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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
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
Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets [PDF]
Journal of Human Genetics, 2012 This study aimed to identify the underlying genetic mutation in patients with hypophosphatemic rickets (HR). Genomic DNA was analysed for mutations in PHEX, FGF23 and CLCN5 by polymerase chain reaction (PCR) followed by denaturing high-performance liquid chromatography (dHPLC).
Beck-Nielsen, Signe +3 more
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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
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
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1 [PDF]
Clinical and Experimental Nephrology, 2020 Abstract Background In recent years, the elucidation of splicing abnormalities as a cause of hereditary diseases has progressed. However, there are no comprehensive reports of suspected splicing variants in the CLCN5 gene in Dent disease cases.
Tomohiko Inoue +13 more
openaire +2 more sources