@article{oai:air.repo.nii.ac.jp:00004742,
 author = {Inoue, Masataka and Tamura, Hiroaki and Takahashi, Tsutomu},
 issue = {3},
 journal = {秋田医学, AKITA JOURNAL OF MEDICINE(AKITA IGAKU)},
 month = {Mar},
 note = {Dent's disease is an X-linked renal tubulopathy characterized by clinical features such as low molecular weight (LMW) proteinuria, hypercalciuria, and progressive renal failure. In Dent's disease, reabsorption of glomerulus-filtered LMW protein in the proximal tubular cells is decreased due to a malfunction of cellular endocytosis caused either by mutation in the Cl⁻/H⁺ exchanger ClC-5-encoding CLCN5 gene (in about 60% cases) or the phosphatidylinositol 4.5-biphosphate 5-phosphatase-encoding OCRL1 gene (in about 20% cases). Three patients diagnosed with Dent's disease using clinical criteria were genetically defined by mutational analyses of the CLCN5 gene and the OCRL1 gene. A 20-base pair duplication, c.300_319dup, of the OCRL1 gene, which is predicted to encode a premature truncated OCRL1 protein, and a single base deletion, c.1726delT of the CLCN5 gene, which is predicted to encode a premature truncated CLCN5 protein, were identified separately in two of the patients. No pathological gene variant was identified in the third patient.
Exosomes are one of three categories of extracellular vesicles released extracellularly by various cells. They have been identified to play a role in cellular homeostasis and cell communication under both physiological and pathological conditions. To understand the pathological effects of the CLCN5 and OCRL1 mutations on urinary exosomes, urinary exosomes were quantified in all three patients with Dent’s disease using a double sandwich ELISA. Interestingly, urinary exosomes were significantly increased in the CLCN5 gene-mutated patient (18.8±3.3mg/gCr ; p<0.01) and in the nonmutated patient (4.73±1.5mg/gCr ; p<0.05) compared to in the three controls (2.5±0.7mg/gCr). The results suggest a possible pathological role for exosome biology in Dent's disease.},
 pages = {99--106},
 title = {A STUDY OF URINARY EXOSOMES IN GENETICALLY DEFINED DENT'S DISEASE},
 volume = {46},
 year = {2020}
}