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01-09-2014 | Skeletal Genetics (ML Johnson and S Ralston, Section Editors)

Hypophosphatemic Rickets: Revealing Novel Control Points for Phosphate Homeostasis

Authors: Kenneth E. White, Julia M. Hum, Michael J. Econs

Published in: Current Osteoporosis Reports | Issue 3/2014

Abstract

Rapid and somewhat surprising advances have recently been made toward understanding the molecular mechanisms causing heritable disorders of hypophosphatemia. The results of clinical, genetic, and translational studies have interwoven novel concepts underlying the endocrine control of phosphate metabolism, with far-reaching implications for treatment of both rare Mendelian diseases as well as common disorders of blood phosphate excess such as chronic kidney disease (CKD). In particular, diseases caused by changes in the expression and proteolytic control of the phosphaturic hormone fibroblast growth factor-23 (FGF23) have come to the forefront in terms of directing new models explaining mineral metabolism. These hypophosphatemic disorders as well as others resulting from independent defects in phosphate transport or metabolism will be reviewed herein, and implications for emerging therapeutic strategies based upon these new findings will be discussed.

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Title: Hypophosphatemic Rickets: Revealing Novel Control Points for Phosphate Homeostasis
Authors: Kenneth E. White
Julia M. Hum
Michael J. Econs
Publication date: 01-09-2014
Publisher: Springer US
Published in: Current Osteoporosis Reports / Issue 3/2014
Print ISSN: 1544-1873
Electronic ISSN: 1544-2241
DOI: https://doi.org/10.1007/s11914-014-0223-2

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Hypophosphatemic Rickets: Revealing Novel Control Points for Phosphate Homeostasis

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