Dent's like proximal renal tubular disorder in a First Nations' kindred.
ASN 30th Annual Meeting, San Antonio
J Am Soc Nephrol (Sep) 8:389A 1997
Synopsis: A patient from one of the native peoples of Canada was identified with a syndrome resembling Dent's disease. Dent's disease is a hereditary cause of Fanconi's syndrome with the distinctive traits of hypercalciuria, nephrocalcinosis, low molecular weight proteinuria, normal serum bicarbonate, and slowly progressive renal failure, and is due to mutations in a chloride channel gene (CLCN5). The patient identified had hypophosphatemic rickets, low molecular weight proteinuria, aminoaciduria, hypokalemia, hypercalciuria, and nephrocalcinosis, and several family members had renal potassium wasting. The sequence of the coding region of the CLCN5 gene, however, had no mutations. This appears to be a disorder resembling Dent's disease, but due to a different genetic defect.
Comment: The finding that mutations in a chloride channel caused Dent's disease (Genomics 29: 598-606, 1995) was surprising, and raised many questions on the role of the chloride channel in proximal tubular solute and protein transport. The present study suggests that a second gene causes the same syndrome. Identification of this gene may help to clarify how the chloride channel abnormalities could cause this syndrome. (Stephen L. Gluck MD, Washington University School of Medicine, St. Louis, MO)
To go back use the BACK button on your browser. Otherwise click on the desired link to this article below:
ASN 30th Annual Meeting, San Antonio
Mg-Ca-PO4 : Fanconi syndrome