Hypophosphatemic Rickets: Unraveling the Role of FGF23

MRC/Wits Developmental Pathways for Health Research Unit, Department of Paediatrics, Faculty of Health Sciences, University of the Witwatersrand, 7 York Rd, Parktown, Johannesburg, 2193, South Africa, .
Calcified Tissue International (Impact Factor: 3.27). 11/2012; 91(5). DOI: 10.1007/s00223-012-9651-0


The classification of the various forms of hypophosphatemic rickets has been rationalized by the discovery of the central role that fibroblast growth factor 23 (FGF23) plays in the pathogenesis of a number of genetic and acquired forms of the disease. Although the details of the interaction of FGF23 with other osteoblast/osteocyte-derived proteins remain unclear at present, the measurement of circulating levels of FGF23 appears to be a useful biochemical test in determining the various causes of hypophosphatemic rickets. Furthermore, animal studies suggest that agents interfering in the action of FGF23 might play important roles in the future management of the FGF23-mediated forms of rickets. Phase 1 and phase 2 trials in humans with X-linked hypophosphatemic rickets are currently under way.

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