X-염색체 관련 저인산혈증(XLH)

진행성, 만성, 골격1,2

XLH은 과도한 섬유화 세포 성장인자(FGF23) 생성에 의해 초래되는 신장 인산염 소실이 특징입니다.1,2

XLH의 증상에 대해 참고하십시요

FGF23이 인산염 항성성에 어떻게 영향을 미치는지 알아보기

조기 평가를 통해 증상 개선에 도움이 됩니다.

1. 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. 2. 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. 3. 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. 4. 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. 5. 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. 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. 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. 8. Looser zones. Radiopaedia Web site. https://radiopaedia.org/articles/looser-zones-1. Accessed October 9, 2017. 9. Theodore-Oklota C, Bonner N, Spencer H et al. Qualitative research to explore the patient experience of X-linked hypophosphataemia and evaluate the suitability of the BPI-SF and WOMAC® as clinical trial end points. Value Health. 2018;21(8):973-983.

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