title: Chloride channels in renal disease.
abstract: Recent studies of hereditary renal tubular disorders have facilitated the identification and roles of chloride channels and cotransporters in the regulation of the most abundant anion, Cl-, in the ECF. Thus, mutations that result in a loss of function of the voltage-gated chloride channel, CLC-5, are associated with Dent's disease, which is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. Mutations of another voltage-gated chloride channel, CLC-Kb, are associated with a form of Bartter's syndrome, whereas other forms of Bartter's syndrome are caused by mutations in the bumetanide-sensitive sodium-potassium-chloride cotransporter (NKCC2) and the potassium channel, ROMK. Finally, mutations of the thiazide-sensitive sodium-chloride cotransporter (NCCT) are associated with Gitelman's syndrome. These studies have helped to elucidate some of the renal tubular mechanisms regulating mineral homeostasis and the role of chloride channels.
authors.affiliation: MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, England.
authors.forename: R V
authors.initials: RV
authors.lastname: Thakker
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D000818:Animals; D001477:Bartter Syndrome / Q000235:genetics; D018118:Chloride Channels / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007669:Kidney Calculi / Q000235:genetics; D007674:Kidney Diseases / Q000378:metabolism*; D008969:Molecular Sequence Data; D005810:Multigene Family; D009154:Mutation / Q000502:physiology
chemical_list: D018118:Chloride Channels