Hypophosphatemic Rickets: Lessons from Disrupted FGF23 Control of Phosphorus Homeostasis

Bracha K. Goldsweig, Thomas O. Carpenter

Research output: Contribution to journalReview articlepeer-review

41 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)88-97
Number of pages10
JournalCurrent Osteoporosis Reports
Issue number2
StatePublished - Apr 2015
Externally publishedYes


  • Bone
  • FGF23
  • Osteomalacia
  • Phosphate
  • Rickets

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism


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