X-linked Hypophosphatemic Rickets: the Challenges of Treatment

1.

Lee JY, Imel EA. The changing face of hypophosphatemic disorders in the FGF-23 era. Pediatr Endocrinol Rev. 2013;10:367–79.

PubMed  PubMed Central  Google Scholar 

2.

Carpenter T, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26:1381–8.

Article  Google Scholar 

3.

Fuente R, Gil-Peña H, Claramunt-Taberner D, Hernández O, Fernández-Iglesias A, Alonso-Durán L, et al. X-linked hypophosphatemia and growth. Rev Endocr Metab Disord. 2017;18:107–15.

CAS  Article  Google Scholar 

4.

Rothenbuhler A, Schnabel D, Högler W, Linglart A. Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH). Metabolism. 2019. https://doi.org/10.1016/j.metabol.2019.03.009.

5.

Nehgme R, Fahey JT, Smith C, Carpenter TO. Cardiovascular abnormalities in patients with X-linked hypophosphatemia. J Clin Endocrinol Metab. 1997;82:2450–4.

CAS  Article  Google Scholar 

6.

Cheema JI, Grissom LE, Harcke TH. Radiographic characteristics of lower-extremity bowing in children. Radiographics. 2003. https://doi.org/10.1148/rg.234025149.

Article  Google Scholar 

7.

Linglart A, Biosse-Duplan M, Briot K, Chaussain C, Esterle L, Guillaume-Czitrom S, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3:R13–30.

Article  Google Scholar 

8.

Taylor A, Sherman NH, Norman ME. Nephrocalcinosis in X-linked hypophosphatemia: effect of treatment versus disease. Pediatr Nephrol. 1995;9:173–5.

CAS  Article  Google Scholar 

9.

Quinlan C, Guegan K, Offiah A, O’Neill R, Hiorns MP, Ellard S, et al. Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment. Pediatr Nephrol. 2012;27:581–8.

Article  Google Scholar 

10.

Morey M, Castro-Feijóo L, Barreiro J, Cabanas P, Pombo M, Gil M, et al. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type. BMC Med Genet. 2011;12:116.

CAS  Article  Google Scholar 

11.

Sarıakçalı B, Jamaspishvili E, Evran M, Sert M, Tetiker T. A case of hypophosphatemic rickets with the secondary hyperparathyroidism. Am J Med Case Rep. 2014;2:158–60.

Google Scholar 

12.

Savio RM, Gosnell JE, Posen S, Reeve TS, Delbridge LW. Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets. Arch Surg. 2004;139:218–22.

Article  Google Scholar 

13.

Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, et al. FGF23 and its role in X-linked hypophosphatemia-related morbidity. Orphanet J Rare Dis. 2019;14:58.

Article  Google Scholar 

14.

Nakamura Y, Takagi M, Takeda R, Miyai K, Hasegawa Y. Hypertension is a characteristic complication of X-linked hypophosphatemia. Endocr J. 2017;64:283–9.

CAS  Article  Google Scholar 

15.

Whyte MP, Carpenter TO, Gottesman GS, Mao M, Skrinar A, San Martin J, et al. Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial. Lancet Diabetes Endocrinol. 2019;7:189–99.

Article  Google Scholar 

16.

Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Lingart A, et al. Burosumab therapy in children with X-linked hypophosphatemia. N Engl J Med. 2018;378:1987–98.

CAS  Article  Google Scholar 

17.

Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, et al. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet. 2019. https://doi.org/10.1016/S0140-6736(19)30654-3.

CAS  Article  Google Scholar 

18.

Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, et al. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. J Clin Invest. 2014;124:1587–97.

CAS  Article  Google Scholar 

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