成人評估

臨床評估

為了監測進行中活動性疾病,每年應進行體重、行動能力和疼痛的臨床評估。1

可使用放射影像、腎臟和生化監測。

放射影像

放射影像評估有助於確認不全性骨折和著骨點病變。2

腎臟

每兩年應進行一次腎臟超音波。1

生化學

每年應評估血液的 ALP、總血鈣、PTH 和肌酸酐。每 6 個月應評估尿液中的鈣含量。1

身體功能和行動能力

使用例如 6 分鐘步行測驗之工具,定期評估行動能力和身體功能的變化。

成年患者的持續監測

如同兒童患者,建議定期監測以避免高血鈣、高尿鈣、腎鈣質沉積症和副甲狀腺機能亢進。1

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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. Ruppe MD. X-linked hypophosphatemia. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. Gene Reviews. https://www.ncbi.nlm.nih.gov/books/NBK83985/.資料查詢日期:2017 年 10 月 20 日 3. 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. 4. Penido MG, Alon US. Phosphate homeostasis and its role in bone health. Pediatr Nephrol. 2012;27(11):2039-2048. 5. Beck-Nielsen SS, Brusgaard K, Rasmussen LM, et al. Phenotype presentation of hypophosphatemic rickets in adults. Calcif Tissue Int. 2010;87(2):108-119. 6. 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. 7. Looser zones. Radiopaedia website. https://radiopaedia.org/articles/looser-zones-1.資料查詢日期:2017 年 10 月 9 日。 8. Pseudoarthrosis (differential). Radiopaedia website. https://radiopaedia.org/articles/pseudoarthrosis-differential?lang=us.資料查詢日期:2019 年 9 月 20 日。 9. Pal R, Bhansali A. X-linked hypophosphatemia with enthesopathy. BMJ Case Rep. 2017;1-2. 10. Karaplis AC, Bai X, Falet J-P, Macica CM. Mineralizing enthesopathy is a common feature of renal phosphate-wasting disorders attributed to FGF23 and is exacerbated by standard therapy in hyp mice. Endocrinology. 2012;153(12):5906-5917. 11. Opsahl Vital S, Gaucher C, Bardet C, et al. Tooth dentin defects reflect genetic disorders affecting bone mineralisation. Bone. 2012;50(4):989-997. 12. Carpenter TO. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am. 1997;44(2):443-466. 13. Teeth. Human Anatomy. WebMD Medical Encyclopedia. https://www.webmd.com/oral-health/picture-of-the-teeth#1.WebMD, LLC.2015.資料查詢日期:2017 年 12 月 9 日。 14. 6-Minute Walk Test. 美國胸腔醫學會網站。https://www.thoracic.org/statements/resources/pfet/sixminute.pdf。資料查詢日期:2017 年 11 月 16 日。 15. 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. 16. Payne RB. Renal tubular reabsorption of phosphate (TmP/GFR): indications and interpretation. Ann Clin Biochem. 1998;35(pt. 2):201-206. 17. Santos F, Fuente R, Mejia N, Mantecon L, Gil-Peña H, Ordoñez FA. Hypophosphatemia and growth. Pediatr Nephrol. 2013;28(4):595-603. 18. Goldsweig BK, Carpenter TO. Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. Curr Osteoporos Rep. 2015;13(2):88-97. 19. Imel EA, Zhang X, Ruppe MD, et al. Prolonged correction of serum phosphorus in adults with X-linked hypophosphatemia using monthly doses of KRN23. J Clin Endocrinol Metab. 2015;100(7):2565-2573. 20. Özkan B. Nutritional rickets. J Clin Res Pediatr Endocrinol. 2010;2(4):137-143. 21. Nield LS, Mahajan P, Joshi A, Kamat D. Rickets: not a disease of the past. Am Fam Physician. 2006;74(4):619-626. 22. 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.
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