title: [From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes].
abstract: Dent's disease is an X-linked disorder, characterized by generalized proximal tubular dysfunction, nephrolithiasis, nephrocalcinosis and the development ofend-stage renal disease, generally occurring after the age of thirty. In the majority of cases, the disease is caused by mutations in the CLCN5-gene. The pathogenesis of the disease has not yet been clarified. Defective recycling of multi-ligand proximal tubular receptors megalin and cubilin is considered responsible for the defective reabsorption of low molecular weight proteins, albumin, hormones and vitamins. Treatment with thiazide diuretics to diminish the hypercalciuria in combination with citrate supplements might prevent renal stone formation and deterioration of renal function. In the laboratory ofDNA diagnostics in the Radboud University Nijmegen Medical Centre, the molecular analysis of the CLCN5-gene in patients suspected with this disease is performed.
authors.affiliation: Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. e.levtchenko@cukz.umcn.nl
authors.forename: E N
authors.initials: EN
authors.lastname: Levtchenko
authors.forename: L A H
authors.initials: LA
authors.lastname: Monnens
authors.forename: A
authors.initials: A
authors.lastname: Bökenkamp
authors.forename: N V
authors.initials: NV
authors.lastname: Knoers
mesh_terms: D018118:Chloride Channels / Q000235:genetics*; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009399:Nephrons / Q000473:pathology / Q000502:physiology; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis / Q000235:genetics; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D017354:Point Mutation; D013577:Syndrome; D000099182:Phosphoinositide 5-Phosphatases
chemical_list: D018118:Chloride Channels; D010744:Phosphoric Monoester Hydrolases; D000099182:Phosphoinositide 5-Phosphatases; C097503:CLC-5 chloride channel