Paediatric assessment

Continually monitor paediatric patients

Since XLH is a chronic, progressive skeletal disorder,1-4    regular assessment is needed from childhood through adulthood to monitor the effects.5 Children should also be asked to identify areas of pain that may not show up during office visits.

Monitoring and dose adjustment at 3-month intervals are recommended to avoid hypercalcaemia, hypercalciuria, nephrocalcinosis, and hyperparathyroidism5
1. Beck-Nielsen SS, Brock-Jacobsen B, Gram J, Brixen K, Jensen TK. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur J Endocrinol. 2009;160(3):491-497. 2. 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. 3. 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. 4. 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. 5. 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. 6. Ruppe MD. X-linked hypophosphatemia. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. Gene Reviews. Accessed October 20, 2017. 7. Pettifor JM. What’s new in hypophosphataemic rickets? Eur J Pediatr. 2008;167(5):493-499. 8. Penido MG, Alon US. Phosphate homeostasis and its role in bone health. Pediatr Nephrol. 2012;27(11):2039-2048. 9. 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. 10. Sass P, Hassan G. Lower extremity abnormalities in children. Am Fam Physician. 2003;68(3):461-468. 11. Stevens NM, Hennrikus WL. 3 cases of genu valgum in medically treated X-linked hypophosphatemic rickets. Austin J Orthop Rheumatol. 2015;2(3):1-3. 12. Gizard A, Rothenbuhler A, Pejin Z, et al. Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR). Endocr Connect. 2017;6(8):566-573. 13. Frankfort horizontal plane. Merriam Webster Medical Dictionary Online Web site. Accessed October 17, 2017. 14. de Onis M, Blössner M. WHO Global Database on Child Growth and Malnutrition. Geneva, Switzerland: World Health Organization; 1997. 15. Geiger R, Strasak A, Treml B, et al. Six-minute walk test in children and adolescents. J Paediatr. 2007;150(4):395-399. 16. Daltroy LH, Liang MH, Fossel MH, et al. The POSNA Paediatric Musculoskeletal Functional Health Questionnaire: report on reliability, validity, and sensitivity to change. J Paediatr Orthop. 1998;18(5):561-571. 17. Broderick JE. Advances in patient-reported outcomes: the NIH PROMIS measures. eGEMS. 2013;1(1):1015. 18. Saris-Baglama RN, DeRosa MA, Raczek AE, et al. Preliminary validation of the SF-10v2 for Children among those with and without disabilities. Poster presented at the American Public Health Association 134th Annual Meeting and Exposition; November 4–8, 2006. Boston, MA. 19. Hicks C, von Baeyer C, Spafford P, et al. The FACES Pain Scale – revised: toward a common metric in paediatric pain measurement. Pain. 2001;93(2):173-183. 20. Payne RB. Renal tubular reabsorption of phosphate (TmP/GFR): indications and interpretation. Ann Clin Biochem. 1998;35(pt. 2):201-206. 21. Santos F, Fuente R, Mejia N, Mantecon L, Gil-Peña H, Ordoñez FA. Hypophosphatemia and growth. Pediatr Nephrol. 2013;28(4):595-603. 22. Goldsweig BK, Carpenter TO. Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. Curr Osteoporos Rep. 2015;13(2):88-97. 23. Imel EA, Carpenter TO. A practical clinical approach to paediatric phosphate disorders. Endocr Dev. 2015;28:134-161. 24. Özkan B. Nutritional rickets. J Clin Res Pediatr Endocrinol. 2010;2(4):137-143. 25. Nield LS, Mahajan P, Joshi A, Kamat D. Rickets: not a disease of the past. Am Fam Physician. 2006;74(4):619-626. 26. Haffner D, Emma F, Eastwood DM, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15(7):435-455.