Clinical manifestations in adult patients with XLH

Clinical manifestations in adults with XLH arise from1,2:

  • New and continuing symptoms as a result of ongoing, active disease
  • Unresolved complications of XLH from childhood
1. 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. 2. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphataemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334. 3. 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. 4. Looser zones. Radiopaedia Web site. Accessed October 9, 2017. 5. Jackson WPU, Dowdle E, Linder GC. Vitamin-D-resistant osteomalacia. Br Med J. 1958;1(5082):1269-1274. 6. Insufficiency fracture. Radiopaedia Web site. Accessed October 9, 2017. 7. 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. 8. 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. 9. 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. 10. Econs MJ, Samsa GP, Monger M, Drezner MK, Feussner JR. X-linked hypophosphatemic rickets: a disease often unknown to affected patients. Bone Miner. 1994;24(1):17-24. 11. Reid IR, Hardy DC, Murphy WA, Teitelbaum SL, Bergfeld MA, Whyte MP. X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. Medicine (Baltimore). 1989;68(6):336-352. 12. Revell PA. Histomorphometry of bone. J Clin Pathol. 1983;36(12):1323-1331. 13. Miller PD. Renal bone disease. In: Orwoll ES, ed. Atlas of Osteoporosis. 3rd ed. Current Medicine Group; 2009. 14. Chambers TJ, Thomson BM, Fuller K. Effect of substrate composition on bone resorption by rabbit osteoclasts. J Cell Sci. 1984;70:61-71.
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