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Hypophosphatemic Rickets: Lessons from Disrupted FGF23 Control of Phosphorus Homeostasis

  • Rare Bone Disease (CB Langman and E Shore, Section Editors)
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Abstract

Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney and therefore plays an essential role in phosphate balance in humans. There is a host of defects that ultimately lead to excess FGF23 levels and thereby cause renal phosphate wasting and hypophosphatemic rickets. We describe the genetic, pathophysiologic, and clinical aspects of this group of disorders with a focus on X-linked hypophosphatemia (XLH), the best characterized of these abnormalities. We also discuss autosomal dominant hypophosphatemic rickets (ADHR), autosomal recessive hypophosphatemic rickets (ARHR) and tumor-induced osteomalacia (TIO) in addition to other rarer FGF23-mediated conditions. We contrast the FGF23-mediated disorders with FGF23-independent hypophosphatemia, specifically hypophosphatemic rickets with hypercalciuria (HHRH). Errant diagnosis of hypophosphatemic disorders is common. This review aims to enhance the recognition and appropriate diagnosis of hypophosphatemia and to guide appropriate treatment.

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Conflict of Interest

BK Goldsweig declares no conflicts of interest.

TO Carpenter has received research grants from Ultragenyx and Kyowa Hakko Kirin and consulting fees from Ultragenyx, Kyowa Hakko Kirin, and Pfizer and has received research support from Abbott for a NIH-sponsored study.

Human and Animal Rights and Informed Consent

All studies by Thomas Carpenter involving human and/or animal subjects were performed after approval by the appropriate institutional review boards. When required, written informed consent was obtained from all participants.

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  1. Department of Pediatrics (Endocrinology), Yale University School of Medicine, 333 Cedar Street, PO Box 208064, New Haven, CT, 06520, USA

    Bracha K. Goldsweig & Thomas O. Carpenter

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  1. Bracha K. Goldsweig
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Correspondence to Thomas O. Carpenter.

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Goldsweig, B.K., Carpenter, T.O. Hypophosphatemic Rickets: Lessons from Disrupted FGF23 Control of Phosphorus Homeostasis. Curr Osteoporos Rep 13, 88–97 (2015). https://doi.org/10.1007/s11914-015-0259-y

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