FGF23 and its role in X-linked hypophosphatemia-related morbidity

Orphanet Journal of Rare Diseases
Signe Sparre Beck-NielsenOuti Mäkitie

Abstract

X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. Patients with XLH present with elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the aforementioned manifestations of the disease. Elevated FGF23 has also been observed in many other diseases of hypophosphatemia, and a range of animal models have been developed to study these diseases, yet the role of FGF23 in the pathophysiology of XLH is incompletely understood. The role of FGF23 in the pathophysiology of XLH is here reviewed by describing what is known about phenotypes associated with various PHEX mutations, animal models of XLH, and non-nutritional diseases of hypophosphatemia, and by presenting molecular pathways that have been proposed to contribute to manifestations of XLH. The pathophysiology of XLH is complex, involving a range of molecular pathways that variously contribute to...Continue Reading

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Citations

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Methods Mentioned

BETA
transgenic

Clinical Trials Mentioned

NCT02163577
NCT02526160

Software Mentioned

KLOTHO

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