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X-Linked Hypophosphatemia: A New Era in Management
X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disease that often causes pain and short stature, as well as decreased physical function, mobility, and quality of life. Hypophosphatemia in XLH is caused by loss of function mutations in the phosphate-regulating endo...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7649833/ https://www.ncbi.nlm.nih.gov/pubmed/33204932 http://dx.doi.org/10.1210/jendso/bvaa151 |
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author | Dahir, Kathryn Roberts, Mary Scott Krolczyk, Stan Simmons, Jill H |
author_facet | Dahir, Kathryn Roberts, Mary Scott Krolczyk, Stan Simmons, Jill H |
author_sort | Dahir, Kathryn |
collection | PubMed |
description | X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disease that often causes pain and short stature, as well as decreased physical function, mobility, and quality of life. Hypophosphatemia in XLH is caused by loss of function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, resulting in excess levels of the phosphate-regulating hormone fibroblast growth factor 23 (FGF23), which leads to renal phosphate wasting and decreased serum 1,25-dihydroxyvitamin D production. Historically, treatment options were limited to oral phosphate and active vitamin D analogues (conventional management) dosed several times daily in an attempt to improve skeletal mineralization by increasing serum phosphorus. The recent approval of burosumab, a fully human monoclonal antibody to FGF23, has provided a new, targeted treatment option for patients with XLH. This review summarizes our current understanding of XLH, the safety and efficacy of conventional management and burosumab, existing recommendations for managing patients, and unanswered questions in the field. |
format | Online Article Text |
id | pubmed-7649833 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-76498332020-11-16 X-Linked Hypophosphatemia: A New Era in Management Dahir, Kathryn Roberts, Mary Scott Krolczyk, Stan Simmons, Jill H J Endocr Soc Mini-Review X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disease that often causes pain and short stature, as well as decreased physical function, mobility, and quality of life. Hypophosphatemia in XLH is caused by loss of function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, resulting in excess levels of the phosphate-regulating hormone fibroblast growth factor 23 (FGF23), which leads to renal phosphate wasting and decreased serum 1,25-dihydroxyvitamin D production. Historically, treatment options were limited to oral phosphate and active vitamin D analogues (conventional management) dosed several times daily in an attempt to improve skeletal mineralization by increasing serum phosphorus. The recent approval of burosumab, a fully human monoclonal antibody to FGF23, has provided a new, targeted treatment option for patients with XLH. This review summarizes our current understanding of XLH, the safety and efficacy of conventional management and burosumab, existing recommendations for managing patients, and unanswered questions in the field. Oxford University Press 2020-10-14 /pmc/articles/PMC7649833/ /pubmed/33204932 http://dx.doi.org/10.1210/jendso/bvaa151 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Mini-Review Dahir, Kathryn Roberts, Mary Scott Krolczyk, Stan Simmons, Jill H X-Linked Hypophosphatemia: A New Era in Management |
title | X-Linked Hypophosphatemia: A New Era in Management |
title_full | X-Linked Hypophosphatemia: A New Era in Management |
title_fullStr | X-Linked Hypophosphatemia: A New Era in Management |
title_full_unstemmed | X-Linked Hypophosphatemia: A New Era in Management |
title_short | X-Linked Hypophosphatemia: A New Era in Management |
title_sort | x-linked hypophosphatemia: a new era in management |
topic | Mini-Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7649833/ https://www.ncbi.nlm.nih.gov/pubmed/33204932 http://dx.doi.org/10.1210/jendso/bvaa151 |
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