Complications and Treatments in Adult X-Linked Hypophosphatemia
X-linked hypophosphatemia (XLH) is a rare inherited disorder involving elevated levels of fibroblast growth factor (FGF) 23, and is caused by loss-of-function mutations in the <i>PHEX</i> gene. FGF23 induces renal phosphate wasting and suppresses the activation of vitamin D, resulting in...
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| Format: | Article |
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MDPI AG
2022-09-01
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| Series: | Endocrines |
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| Online Access: | https://www.mdpi.com/2673-396X/3/3/47 |
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| author | Yasuo Imanishi Tetsuo Shoji Masanori Emoto |
| author_facet | Yasuo Imanishi Tetsuo Shoji Masanori Emoto |
| author_sort | Yasuo Imanishi |
| collection | DOAJ |
| description | X-linked hypophosphatemia (XLH) is a rare inherited disorder involving elevated levels of fibroblast growth factor (FGF) 23, and is caused by loss-of-function mutations in the <i>PHEX</i> gene. FGF23 induces renal phosphate wasting and suppresses the activation of vitamin D, resulting in defective bone mineralization and rachitic changes in the growth plate and osteomalacia. Conventional treatment with combinations of oral inorganic phosphate and active vitamin D analogs enhances bone calcification, but the efficacy of conventional treatment is insufficient for adult XLH patients to achieve an acceptable quality of life. Burosumab, a fully human monoclonal anti-FGF23 antibody, binds and inhibits FGF23, correcting hypophosphatemia and hypovitaminosis D. This review describes a typical adult with XLH and summarizes the results of clinical trials of burosumab in adults with XLH. |
| first_indexed | 2024-03-10T00:10:22Z |
| format | Article |
| id | doaj.art-ad420e4825d7473eb89a3a16d666b719 |
| institution | Directory Open Access Journal |
| issn | 2673-396X |
| language | English |
| last_indexed | 2024-03-10T00:10:22Z |
| publishDate | 2022-09-01 |
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| record_format | Article |
| series | Endocrines |
| spelling | doaj.art-ad420e4825d7473eb89a3a16d666b7192023-11-23T16:00:39ZengMDPI AGEndocrines2673-396X2022-09-013356056910.3390/endocrines3030047Complications and Treatments in Adult X-Linked HypophosphatemiaYasuo Imanishi0Tetsuo Shoji1Masanori Emoto2Department of Metabolism, Endocrinology and Molecular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka 545-8585, JapanDepartment of Vascular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka 545-8585, JapanDepartment of Metabolism, Endocrinology and Molecular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka 545-8585, JapanX-linked hypophosphatemia (XLH) is a rare inherited disorder involving elevated levels of fibroblast growth factor (FGF) 23, and is caused by loss-of-function mutations in the <i>PHEX</i> gene. FGF23 induces renal phosphate wasting and suppresses the activation of vitamin D, resulting in defective bone mineralization and rachitic changes in the growth plate and osteomalacia. Conventional treatment with combinations of oral inorganic phosphate and active vitamin D analogs enhances bone calcification, but the efficacy of conventional treatment is insufficient for adult XLH patients to achieve an acceptable quality of life. Burosumab, a fully human monoclonal anti-FGF23 antibody, binds and inhibits FGF23, correcting hypophosphatemia and hypovitaminosis D. This review describes a typical adult with XLH and summarizes the results of clinical trials of burosumab in adults with XLH.https://www.mdpi.com/2673-396X/3/3/47burosumabFGF23hypophosphatemic ricketsXLH |
| spellingShingle | Yasuo Imanishi Tetsuo Shoji Masanori Emoto Complications and Treatments in Adult X-Linked Hypophosphatemia Endocrines burosumab FGF23 hypophosphatemic rickets XLH |
| title | Complications and Treatments in Adult X-Linked Hypophosphatemia |
| title_full | Complications and Treatments in Adult X-Linked Hypophosphatemia |
| title_fullStr | Complications and Treatments in Adult X-Linked Hypophosphatemia |
| title_full_unstemmed | Complications and Treatments in Adult X-Linked Hypophosphatemia |
| title_short | Complications and Treatments in Adult X-Linked Hypophosphatemia |
| title_sort | complications and treatments in adult x linked hypophosphatemia |
| topic | burosumab FGF23 hypophosphatemic rickets XLH |
| url | https://www.mdpi.com/2673-396X/3/3/47 |
| work_keys_str_mv | AT yasuoimanishi complicationsandtreatmentsinadultxlinkedhypophosphatemia AT tetsuoshoji complicationsandtreatmentsinadultxlinkedhypophosphatemia AT masanoriemoto complicationsandtreatmentsinadultxlinkedhypophosphatemia |