Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3’-UTR change as a possible cause-

Sawatsubashi, Shun; Takashi, Yuichi; Endo, Itsuro; Kondo, Takeshi; Abe, Masahiro; Matsumoto, Toshio; Fukumoto, Seiji

doi:10.1016/j.bone.2024.117057

Bone

2024

DOI: 10.1016/j.bone.2024.117057

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Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3’-UTR change as a possible cause-

Shun Sawatsubashi,

Yuichi Takashi,

Itsuro Endo

et al.

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2024

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Recent advances in fibroblast growth factor 23-related hypophosphatemic disorders

Takashi,

Kawanami,

Fukumoto

2024

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Purpose of review Fibroblast growth factor 23 (FGF23) is a hormone to reduce blood phosphate concentration. Excessive actions of FGF23 induce FGF23-related hypophosphatemic disorders, such as X-linked hypophosphatemic rickets (XLH) and tumor-induced osteomalacia (TIO). We will summarize recent advances in the diagnosis and treatment of FGF23-related hypophosphatemic disorders. Recent findings The measurement of blood FGF23 is useful to make a diagnosis of FGF23-related hypophosphatemic disorders. It was reported that many patients with FGF23-related hypophosphatemic disorders, especially TIO, were misdiagnosed, therefore, it is necessary to enhance the awareness of these diseases. A novel method to inhibit excessive actions of FGF23 by a human monoclonal antibody for FGF23, burosumab, has been approved in several countries. In more long-term observation than clinical trials, burosumab has also been shown to improve biochemical abnormalities and symptoms of rickets/osteomalacia. Following these advances, several registries and consensus recommendations on FGF23-related hypophosphatemic disorders, especially XLH, have been established in each country or region. Summary Further long-term effects of burosumab and the precise mechanism of FGF23 overproduction in patients with FGF23-related hypophosphatemic disorders need to be clarified in the future studies.

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Recent advances in fibroblast growth factor 23-related hypophosphatemic disorders

Takashi,

Kawanami,

Fukumoto

2024

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

Self Cite

View full text Add to dashboard Cite

show abstract

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Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3’-UTR change as a possible cause-

Cited by 1 publication

References 19 publications

Recent advances in fibroblast growth factor 23-related hypophosphatemic disorders

Recent advances in fibroblast growth factor 23-related hypophosphatemic disorders

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