XLH 兒童患者的臨床症狀表現

XLH 會造成終生骨骼疾病,並可能大幅降低身體功能和生活品質1

XLH 通常會在出生後 2 年內出現,並發生漸進性下肢彎曲或膝外翻,開始承受體重後出現生長遲緩,以及特有的佝僂病臨床表徵。同時也可能觀察到疼痛、步態障礙和整體運動功能降低。2,3

1. 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. 2. Pettifor JM. What’s new in hypophosphataemic rickets? Eur J Pediatr. 2008;167(5):493-499. 3. 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。 4. 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. 5. 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. 6. 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. 7. 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. 8. 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. 9. 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. 10. 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. 11. Carpenter TO. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am. 1997;44(2):443-466. 12. Opsahl Vital S, Gaucher C, Bardet C, et al. Tooth dentine defects reflect genetic disorders affecting bone mineralization. Bone. 2012;50(4):989-997. 13. Picture of the teeth: human anatomy.WebMD. https://www.webmd.com/oral-health/picture-of-the-teeth#1.Updated 2015.資料查詢日期:2017 年 12 月 9 日。