Vitamin A responsive night blindness in Dent's disease.
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.
Sethi
Sidharth Kumar
SK
Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Ludwig
Michael
M
Kabra
Madhulika
M
Hari
Pankaj
P
Bagga
Arvind
A
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*
C097503:CLC-5 chloride channel; D018118:Chloride Channels; D014801:Vitamin A