Galina Nesterova, May Christine Malicdan, Kaori Yasuda, Toshiyuki Sakaki, Thierry Vilboux, Carla Ciccone, Ronald Horst, Yan Huang, Gretchen Golas, Wendy Introne, Marjan Huizing, David Adams, Cornelius F Boerkoel, Michael T Collins, William A Gahl
BACKGROUND AND OBJECTIVES: Elevated serum vitamin D with hypercalciuria can result in nephrocalcinosis and nephrolithiasis. This study evaluated the cause of excess 1,25-dihydroxycholecalciferol (1α,25(OH)2D3) in the development of those disorders in two individuals. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Two patients with elevated vitamin D levels and nephrocalcinosis or nephrolithiasis were investigated at the National Institutes of Health (NIH) Clinical Center and the NIH Undiagnosed Diseases Program, by measuring calcium, phosphate, and vitamin D metabolites, and by performing CYP24A1 mutation analysis...
April 2013: Clinical Journal of the American Society of Nephrology: CJASN