X-Linked Hypophosphatemia: A New Era in Management.

Journal of the Endocrine Society
Kathryn DahirJill H Simmons

Abstract

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.

References

Jan 1, 1991·Skeletal Radiology·M J EconsM K Drezner
Apr 1, 1990·Metabolism: Clinical and Experimental·F H Glorieux
Sep 1, 1988·Clinical Radiology·S P O'MalleyR T Ramsden
Jul 4, 1985·The New England Journal of Medicine·R P PolissonM K Drezner
Feb 1, 1984·Annals of Internal Medicine·M DaviesJ Valentine
Apr 1, 1997·Pediatric Clinics of North America·T O Carpenter
Aug 14, 2003·The Journal of Clinical Endocrinology and Metabolism·O MäkitieE Sochett
Sep 4, 2003·The Journal of Clinical Investigation·Mara RiminucciPamela Gehron Robey
Feb 1, 1964·The American Journal of Medicine·C H BURNETTB J WARLAND
Oct 1, 2005·The American Journal of Medicine·André Gaasbeek, A Edo Meinders
Mar 4, 2006·Kidney International·S C Schiavi
Jan 25, 2008·European Journal of Pediatrics·John M Pettifor
Dec 20, 2008·European Journal of Endocrinology·Signe Sparre Beck-NielsenTina Kold Jensen
Feb 17, 2009·Human Genetics·Céline GaucherFrédéric Jehan
Jun 9, 2009·Journal of Bone and Mineral Metabolism·Dov Tiosano, Ze'ev Hochberg
Jun 12, 2009·American Journal of Physiology. Renal Physiology·Jyothsna GattineniMichel Baum
Jul 18, 2009·Calcified Tissue International·Guoying LiangCarolyn M Macica
Oct 8, 2009·Clinical Journal of the American Society of Nephrology : CJASN·Barton S LevineArnold J Felsenfeld
Feb 17, 2010·The Journal of Clinical Endocrinology and Metabolism·Erik A ImelMichael J Econs
Jun 5, 2010·Calcified Tissue International·Signe S Beck-NielsenJeppe Gram
Dec 2, 2010·Clinics·Melissa Almeida SouzaMaria Helena Vaisbich
May 4, 2011·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Thomas O CarpenterKarl L Insogna
Oct 19, 2011·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Shoji IchikawaMichael J Econs
Mar 8, 2012·Advances in Experimental Medicine and Biology·Aline Martin, L Darryl Quarles
May 4, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Maria Goretti Penido, Uri S Alon
May 29, 2012·The Journal of Clinical Endocrinology and Metabolism·Louis-Nicolas VeilleuxFrank Rauch
Jun 15, 2012·Journal of Human Genetics·Signe S Beck-NielsenKlaus Brusgaard
Aug 11, 2012·Journal of Hepatology·Martin SchaeferCarmine M Pariante
Nov 28, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Fernando SantosFlor A Ordoñez
Nov 28, 2012·Pediatric Radiology·Richard M Shore, Russell W Chesney
Dec 5, 2012·Pediatric Radiology·Richard M Shore, Russell W Chesney
Feb 20, 2014·Endocrine Connections·Agnès LinglartPol Harvengt
Apr 5, 2014·Journal of Dental Research·B L FosterM T Collins
May 6, 2014·Clinical Rheumatology·Lourdes MateoAlejandro Olivé
Jul 22, 2014·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Steven MummMichael P Whyte
Jul 16, 2015·The Journal of Clinical Endocrinology and Metabolism·Jessica ConnorThomas O Carpenter
Jan 12, 2016·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Eva S LiuMarie B Demay
Jan 20, 2016·European Journal of Endocrinology·Hélène CheKarine Briot
Jun 25, 2016·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Dominik H PestaGerald I Shulman

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Citations

Aug 24, 2021·Frontiers in Endocrinology·Giampiero Igli Baroncelli, Stefano Mora
Sep 16, 2021·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Maximilian M DelsmannTim Rolvien
Nov 7, 2021·The Journal of Clinical Endocrinology and Metabolism·Kathryn DahirMaria Díaz-González de Ferris

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