A Functional Allelic Variant of theFGF23Gene Is Associated with Renal Phosphate Leak in Calcium Nephrolithiasis | Zendy

Domenico Rendina | Zendy; Teresa Esposito | Zendy; Giuseppe Mossetti | Zendy; Gianpaolo De Filippo | Zendy; Fernando Gianfrancesco | Zendy; Anna Perfetti | Zendy; Sara Magliocca | Zendy; Pietro Formisano | Zendy; Dominique Prié | Zendy; Pasquale Strazzullo | Zendy

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A Functional Allelic Variant of theFGF23Gene Is Associated with Renal Phosphate Leak in Calcium Nephrolithiasis

Author(s) -

Domenico Rendina,

Teresa Esposito,

Giuseppe Mossetti,

Gianpaolo De Filippo,

Fernando Gianfrancesco,

Anna Perfetti,

Sara Magliocca,

Pietro Formisano,

Dominique Prié,

Pasquale Strazzullo

Publication year - 2012

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2011-1528

Subject(s) - hypophosphatemia , fibroblast growth factor 23 , endocrinology , medicine , renal function , phosphate , parathyroid hormone , calcium , biology , biochemistry

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 (FGF23), a hormone regulating phosphate homeostasis.

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