X-linked hypophosphatemia (XLH)
Progressive, chronic, skeletal1,2
XLH is characterized by renal phosphate wasting, which is caused by excess fibroblast growth factor 23 (FGF23) production1,2
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1. Martin A, Quarles LD. Evidence for FGF23 involvement in a bone-kidney axis regulating bone mineralization and systemic phosphate and vitamin D homeostasis. Adv Exp Med Biol. 2012;728:65-83. 2. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. 3. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-R30. 4. Zivičnjak M, Schnabel D, Billing H, et al. Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2011;26(2):223-231. 5. Che H, Roux C, Etcheto A, et al. Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. Eur J Endocrinol. 2016;174(3):325-333. 6. Linglart A, Dvorak-Ewell M, Marshall A, et al. Impaired mobility and pain significantly impact the quality of life of children with X-linked hypophosphatemia (XLH). Poster presented at: ICCBH 2015 Salzburg, Austria. 7. Skrinar A, Marshall A, San Martin J, Dvorak-Ewell M. X-linked hypophosphatemia (XLH) impairs skeletal health outcomes and physical function in affected adults. Poster presented at: Endocrine Society’s 97th Annual Meeting and Expo, March 5-8, 2015. San Diego, CA.8. Veilleux LN, Cheung M, Ben Amor M, Rauch F. Abnormalities in muscle density and muscle function in hypophosphatemic rickets. J Clin Endocrinol Metab. 2012;97(8):E1492-E1498. 9. Looser zones. Radiopaedia Web site. https://radiopaedia.org/articles/looser-zones-1. Accessed October 9, 2017.