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Disease of the Month |
Charles and Jane Pak Center of Mineral Metabolism and Clinical Research, and the Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas
Address correspondence to: Dr. Orson W. Moe, Charles and Jane Pak Center of Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-8855. Phone: 214-648-7993; Fax: 214-645-9993; E-mail: orson.moe{at}utsouthwestern.edu
Hypercalciuria is an important, identifiable, and reversible risk factor in stone formation. The foremost and most fundamental step in dissecting the genetics of hypercalciuria is understanding its pathophysiology. Hypercalciuria is a complex trait. This article outlines the various factors that compromise the attempt to dissect the genetics of hypercalciuria, summarizes the clinical and experimental monogenic causes of hypercalciuria, and outlines the initial results from attempts in studying polygenic hypercalciuria. Finally, the problem is set in perspective of the current database, technologic advances and limitations are highlighted, and prospects of further advances in the field are speculated upon.
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K. Y. Renkema, K. Lee, C. N. Topala, M. Goossens, P. Houillier, R. J. Bindels, and J. G. Hoenderop TRPV5 gene polymorphisms in renal hypercalciuria Nephrol. Dial. Transplant., January 8, 2009; (2009) gfn735v1. [Abstract] [Full Text] [PDF] |
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A. Pasch, F. J. Frey, U. Eisenberger, M. G. Mohaupt, and O. Bonny PTH and 1.25 vitamin D response to a low-calcium diet is associated with bone mineral density in renal stone formers Nephrol. Dial. Transplant., August 1, 2008; 23(8): 2563 - 2570. [Abstract] [Full Text] [PDF] |
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S. R. Khan and P. A. Glenton Calcium oxalate crystal deposition in kidneys of hypercalciuric mice with disrupted type IIa sodium-phosphate cotransporter Am J Physiol Renal Physiol, May 1, 2008; 294(5): F1109 - F1115. [Abstract] [Full Text] [PDF] |
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Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673