title: Vitamin A responsive night blindness in Dent's disease.
abstract: Dent's disease is an X-linked renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis or nephrolithiasis. The disease is caused by mutations in a renal chloride channel gene, CLCN5. We report on three boys, of Indian origin, with Dent's disease that presented at an early age (1-4 years), with polyuria, polydipsia, salt craving, recurrent vitamin A-responsive night blindness, hypophosphataemic rickets, hypercalciuria and low molecular weight proteinuria. All these patients were found to have novel mutations in the CLCN5 gene.
authors.affiliation: Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
authors.forename: Sidharth Kumar
authors.initials: SK
authors.lastname: Sethi
authors.forename: Michael
authors.initials: M
authors.lastname: Ludwig
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Pankaj
authors.initials: P
authors.lastname: Hari
authors.forename: Arvind
authors.initials: A
authors.lastname: Bagga
mesh_terms: D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics; D006801:Humans; D053565:Hypercalciuria / Q000235:genetics* / Q000503:physiopathology; D017674:Hypophosphatemia / Q000235:genetics* / Q000503:physiopathology; D007223:Infant; D008297:Male; D009154:Mutation; D009755:Night Blindness / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D011141:Polyuria / Q000235:genetics* / Q000503:physiopathology; D011507:Proteinuria / Q000235:genetics* / Q000503:physiopathology; D012279:Rickets / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome; D013894:Thirst / Q000502:physiology; D014801:Vitamin A / Q000627:therapeutic use*
chemical_list: C097503:CLC-5 chloride channel; D018118:Chloride Channels; D014801:Vitamin A