Article
A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis.
The Journal of clinical endocrinology and metabolism - 1 May 2012
Rendina Domenico, Esposito Teresa, Mossetti Giuseppe, De Filippo Gianpaolo, Gianfrancesco Fernando, Perfetti Anna, Magliocca Sara, Formisano Pietro, Prié Dominique, Strazzullo Pasquale
Abstract excerpt
BACKGROUND: A significant percentage of patients with calcium nephrolithiasis and normal parathyroid function have renal phosphate leak. This disorder is characterized by idiopathic hypophosphatemia and reduced renal phosphate threshold normalized for the glomerular filtration rate (TmPi/GFR). The majority of these patients harbor high or inappropriately normal circulating levels of fibroblast growth factor 23...
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