Ruppe MD. X-linked hypophosphatemia. Gene Rev. 2017; 22.
Francis F. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet. 1995;11:130–6.
Article
CAS
Google Scholar
Liu S, Tang W, Zhou J, Stubbs JR, Luo Q, Pi M, et al. Fibroblast growth factor 23 is a counter-regulatory phosphaturic hormone for vitamin D. JASN. 2006;17(5):1305–15.
Article
CAS
Google Scholar
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15(7):435–55.
Article
Google Scholar
Mäkitie O, Doria A, Kooh SW, Cole WG, Daneman A, Sochett E. Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 2003;88(8):3591–7.
Article
Google Scholar
Cagnoli M. Spontaneous growth and effect of early therapy with calcitriol and phosphate in X-linked hypophosphatemic rickets. Pediatr Endocrinol Rev. 2017;17:119–22.
Google Scholar
Steendijk R, Hauspie RC. The pattern of growth and growth retardation of patients with hypophosphataemic vitamin D-resistant rickets: a longitudinal study. Eur J Pediatr. 1992;151(6):422–7.
Article
CAS
Google Scholar
GunnarB S, BruceZ M. Hypophosphatemic rickets: final height and clinical symptoms in adults. Lancet. 1989;334(8668):902–5.
Article
Google Scholar
Haffner D, Weinfurth A, Manz F, Schmidt H, Bremer HJ, Mehls O, et al. Long-term outcome of paediatric patients with hereditary tubular disorders. Nephron. 1999;83(3):250–60.
Article
CAS
Google Scholar
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(1):R13-30.
Article
Google Scholar
Jehan F, Gaucher C, Nguyen TM, Walrant-Debray O, Lahlou N, Sinding C, et al. Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. J Clin Endocrinol Metab. 2008;93(12):4672–82.
Article
CAS
Google Scholar
Balsan S, Tieder M. Linear growth in patients with hypophosphatemic vitamin D-resistant rickets: Influence of treatment regimen and parental height. J Pediatr. 1990;116(3):365–71.
Article
CAS
Google Scholar
Reusz GS. Hypophosphataemic rickets. The Lancet. 1990; 178
Berndt M. Clinical course of hypophosphatemic rickets in 23 adults. Clin Nephrol. 1996;45:33–41.
CAS
Google Scholar
Yakar S. Insulin-like growth factors: actions 1 on the skeleton. J Mol Endocrinol 2018; 17‑0298.
Seikaly MG, Brown R, Baum M. The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. Pediatrics. 1997;100(5):879–84.
Article
CAS
Google Scholar
Živičnjak M, Schnabel D, Staude H, Even G, Marx M, Beetz R, et al. Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion. J Clin Endocrinol Metab. 2011;96(12):E2097–105.
Article
Google Scholar
On Behalf of the Hypophosphatemic Rickets Study Group of the “Deutsche Gesellschaft für Kinderendokrinologie und -diabetologie” and “Gesellschaft für Pädiatrische Nephrologie”, Meyerhoff N, Haffner D, Staude H, Wühl E, Marx M, et al. Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2018;33(3):447‑56.
Reusz GS, Miltényi G, Stubnya G, Szabó A, Horváth C, Byrd DJ, et al. X-linked hypophosphatemia: effects of treatment with recombinant human growth hormone. Pediatr Nephrol. 1997;11(5):573–7.
Article
CAS
Google Scholar
Saggese G, Baroncelli GI, Bertelloni S, Perri G. Long-term growth hormone treatment in children with renal hypophosphatemic rickets: effects on growth, mineral metabolism, and bone density. J Pediatr. 1995;127(3):395–402.
Article
CAS
Google Scholar
Hammerman MR. The growth hormone-insulin-like growth factor axis in kidney. 12
Mäkitie O, Toiviainen-Salo S, Marttinen E, Kaitila I, Sochett E, Sipilä I. Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets. Horm Res Paediatr. 2008;69(4):212–20.
Article
Google Scholar
Rothenbühler A, Piquard C, Gueorguieva I, Lahlou N, Linglart A, Bougnères P. Near normalization of adult height and body proportions by growth hormone in pycnodysostosis. J Clin Endocrinol Metab. 2010;95(6):2827–31.
Article
Google Scholar
Rothenbuhler A, Esterle L, Gueorguieva I, Salles JP, Mignot B, Colle M, et al. Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR). Growth Hormon IGF Res. 2017;36:11–5.
Article
CAS
Google Scholar
Baroncelli GI, Bertelloni S, Ceccarelli C, Saggese G. Effect of growth hormone treatment on final height, phosphate metabolism, and bone mineral density in children with X-linked hypophosphatemic rickets. J Pediatr. 2001;138(2):236–43.
Article
CAS
Google Scholar
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(1):107–15.
Article
CAS
Google Scholar
Schutt S, Schumacher M, Holterhus P, Felgenhauer S, Hiort O. Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency. Eur J Endocrinol. 2003;149:317–21.
Article
Google Scholar
Fuente R, Gil-Peña H, Claramunt-Taberner D, Hernández-Frías O, Fernández-Iglesias Á, Hermida-Prado F, et al. Marked alterations in the structure, dynamics and maturation of growth plate likely explain growth retardation and bone deformities of young Hyp mice. Bone. 2018;116:187–95.
Article
CAS
Google Scholar
Liu ES, Zalutskaya A, Chae BT, Zhu ED, Gori F, Demay MB. Phosphate interacts with PTHrP to regulate endochondral bone formation. Endocrinology. 2014;155(10):3750–6.
Article
Google Scholar
Kawai M, Kinoshita S, Kimoto A, Hasegawa Y, Miyagawa K, Yamazaki M, et al. FGF23 suppresses chondrocyte proliferation in the presence of soluble α-Klotho both in vitro and in vivo. J Biol Chem. 2013;288(4):2414–27.
Article
CAS
Google Scholar
Raimann A, Ertl DA, Helmreich M, Sagmeister S, Egerbacher M, Haeusler G. Fibroblast growth factor 23 and Klotho are present in the growth plate. Connect Tissue Res. 2013;54(2):108–17.
Article
CAS
Google Scholar
Haffner D, Nissel R, Wuhl E, Mehls O. Effects of growth hormone treatment on body proportions and final height among small children with X-linked hypophosphatemic rickets. Pediatrics. 2004;113(6):e593–6.
Article
Google Scholar
Yang HM, Mao M, Yang F, Wan C. Recombinant growth hormone therapy for X-linked hypophosphatemia in children. Cochrane Cystic Fibrosis and Genetic Disorders Group, éditeur. Cochrane Database of Systematic Reviews [Internet]. 24 janv 2005 [cité 31 mars 2020]; Disponible sur: https://doi.org/10.1002/14651858.CD004447.pub2
Santos F, Fuente R, Mejia N, Mantecon L, Gil-Peña H, Ordoñez FA. Hypophosphatemia and growth. Pediatr Nephrol. 2013;28(4):595–603.
Article
Google Scholar
Labarta JI. Growth and metabolic effects of long-term recombinant human growth hormone (rhGH) treatment in short children born small for gestational age: GH-RAST study. J Pediatr Endocrinol Metab. 2020;33:923–32.
Article
Google Scholar
Cameron S, Daneman K. A trial of growth hormone therapy in well-controlled hypophosphataemic rickets. Clin Endocrinol. 1999;50(5):577–82.
Article
CAS
Google Scholar
Cohen P, Germak J, Rogol AD, Weng W, Kappelgaard AM, Rosenfeld RG, et al. Variable degree of growth hormone (GH) and insulin-like growth factor (IGF) sensitivity in children with idiopathic short stature compared with GH-deficient patients: evidence from an IGF-based dosing study of short children. J Clin Endocrinol Metab. 2010;95(5):2089–98.
Article
CAS
Google Scholar
Cohen P, Rogol AD, Howard CP, Bright GM, Kappelgaard AM, Rosenfeld RG. Insulin growth factor-based dosing of growth hormone therapy in children: a randomized, controlled study. J Clin Endocrinol Metab. 2007;92(7):2480–6.
Article
CAS
Google Scholar
The WHO. The WHO child growth standards. Available at http://www.who.int/childgrowth/standards/en/.
Ross JL, Lee PA, Gut R, Germak J. Increased height standard deviation scores in response to growth hormone therapy to near-adult height in older children with delayed skeletal maturation: results from the ANSWER program. Int J Pediatr Endocrinol. 2015;2015(1):1.
Article
Google Scholar
Wu D, Chen R, Chen S, Liu G, Chen L, Yang Y, et al. Final adult height of children with idiopathic short stature: a multicenter study on GH therapy alone started during peri-puberty. BMC Pediatr. 2020;20(1):138.
Article
Google Scholar