兒童評估

持續監測兒童患者

由於 XLH 是慢性漸進性骨骼疾病,1-4    regular 需要從兒童期至成年期定期評估,以監測其影響。5 也應詢問兒童以辨別就診時可能不會當場發生的疼痛部位。

建議以 3 個月間隔監測並調整,以避免高血鈣、高尿鈣、腎鈣質沉積症和副甲狀腺機能亢進5
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 Reviewshttps://www.ncbi.nlm.nih.gov/books/NBK83985/.資料查詢日期:2017 年 10 月 20 日。 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 線上醫學辭典網站。https://www.merriam-webster.com/medical/Frankforthorizontalplane。資料查詢日期:2017 年 10 月 17 日。 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.
此網站使用 cookie 協助我們在您瀏覽網站時,提供良好的體驗,也讓我們能夠改善網站內容。