Journal of the American Society of Nephrology
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Published ahead of print on February 2, 2005
J Am Soc Nephrol 16: 729-745, 2005
© 2005 American Society of Nephrology
doi: 10.1681/ASN.2004100888

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Disease of the Month

Genetic Hypercalciuria

Orson W. Moe and Olivier Bonny

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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