Các biểu hiện thận của bệnh Dent và hội chứng Lowe

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J Urol 153:1244–1246 Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV (1999) Intra-renal and subcellular distribution of the human chloride channel, ClC-5, reveals a pathophysiological basis for Dent’s disease. Hum Mol Genet 8:247–257 Piwon N, Gunther W, Schwake M, Bosl MR, Jentsch TJ (2000) ClC-5 Cl−channel disruption impairs endocytosis in a mouse model for Dent’s disease. Nature 408:369–373 Wang SS, Devuyst O, Courtoy PJ, Wang XT, Wang H, Wang Y, Thakker RV, Guggino S, Guggino WB (2000) Mice lacking renal chloride channel, CLC-5, are a model for Dent’s disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum Mol Genet 9:2937–2945 Lowe M (2005) Structure and function of the Lowe syndrome protein OCRL1. 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