Role of ClC-5 in the pathogenesis of hypercalciuria: recent insights from transgenic mouse models.
Dent's disease is an inherited disorder characterized by hypercalciuria, low molecular weight proteinuria, and Fanconi syndrome, which is caused by inactivating mutations in ClC-5, a chloride channel expressed in endosomes of the proximal renal tubule. The role of ClC-5 in the pathogenesis of the hypercalciuria and other myriad manifestations of this disease, however, is largely unknown. New insights from three new transgenic mouse models of Dent's disease, reported in the past year, are discussed.
Yu
A S
AS
Renal Division and Membrane Biology Program, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA. ayu@rics.bwh.harvard.edu
D000818:Animals; D018118:Chloride Channels / Q000235:genetics*; D004195:Disease Models, Animal; D007669:Kidney Calculi / Q000209:etiology / Q000235:genetics; D051379:Mice; D008822:Mice, Transgenic; D051381:Rats
C097503:CLC-5 chloride channel; D018118:Chloride Channels