X-Linked Hypophosphatemia (original) (raw)

• Addison WN, Nakano Y, Loisel T, Crine P, McKee MD. MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM. J Bone Miner Res. 2008;23:1638-49. [PubMed: 18597632]
• Alon U, Hellerstein S. Assessment and interpretation of the tubular threshold for phosphate in infants and children. Pediatr Nephrol. 1994;8:250-1. [PubMed: 8018507]
• Alon US, Levy-Olomucki R, Moore WV, Stubbs J, Liu S, Quarles LD. Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets. Clin J Am Soc Nephrol. 2008;3:658-64. [PMC free article: PMC2386705] [PubMed: 18256372]
• André J, Zhukouskaya VV, Lambert AS, Salles JP, Mignot B, Bardet C, Chaussain C, Rothenbuhler A, Linglart A. Growth hormone treatment improves final height in children with X-linked hypophosphatemia. Orphanet J Rare Dis. 2022;17:444. [PMC free article: PMC9768884] [PubMed: 36544157]
• Arango Sancho P. Complications of phosphate and vitamin D treatment in X-linked hypophosphataemia. Adv Ther. 2020;37:105-112. [PubMed: 32236871]
• Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC. The international X-linked hypophosphatemia (XLH) registry: first interim analysis of baseline demographic, genetic and clinical data. Orphanet J Rare Dis. 2023;18:304. [PMC free article: PMC10523658] [PubMed: 37752558]
• Baroncelli GI, Angiolini M, Ninni E, Galli V, Saggese R, Giuca MR. Prevalence and pathogenesis of dental and periodontal lesions in children with X-linked hypophosphatemic rickets. Eur J Paediatr Dent. 2006;7:61-6. [PubMed: 16842025]
• Beck-Nielsen SS, Brock-Jacobsen B, Gram J, Brixen K, Jensen TK. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur J Endocrinol. 2009;160:491-7. [PubMed: 19095780]
• Beck-Nielsen SS, Brusgaard K, Rasmussen LM, Brixen K, Brock-Jacobsen B, Poulsen MR, Vestergaard P, Ralston SH, Albagha OM, Poulsen S, Haubek D, Gjørup H, Hintze H, Andersen MG, Heickendorff L, Hjelmborg J, Gram J. Phenotype presentation of hypophosphatemic rickets in adults. Calcif Tissue Int. 2010;87:108-19. [PubMed: 20524110]
• Biosse Duplan M, Coyac BR, Bardet C, Zadikian C, Rothenbuhler A, Kamenicky P, Briot K, Linglart A, Chaussain C. Phosphate and vitamin D prevent periodontitis in X-linked hypophosphatemia. J Dent Res. 2017;96:388-95. [PubMed: 27821544]
• Bloudeau L, Linglart A, Flammier S, Portefaix A, Bertholet-Thomas A, Eddiry S, Barosi A, Salles JP, Porquet-Bordes V, Rothenbuhler A, Roger C, Bacchetta J. X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study. Pediatr Nephrol. 2023;38:697-704. [PubMed: 35758999]
• Boukpessi T, Septier D, Bagga S, Garabedian M, Goldberg M, Chaussain-Miller C. Dentin alteration of deciduous teeth in human hypophosphatemic rickets. Calcif Tissue Int. 2006;79:294-300. [PubMed: 17115324]
• Bouzemane A, Vignot E, Dubourg LD, De Mul A, Molin A, Chapurlat R, Fontanges E, Delsart D, Akbari A, Huang SHS, McIntyre CW, Bacchetta J, Lemoine S. Reassuring data on the cardiovascular risk in adults with X-linked hypophosphatemia receiving conventional therapy. J Clin Endocrinol Metab. 2024;109:e488-e494. [PubMed: 37843399]
• Brandi ML, Jan de Beur S, Briot K, Carpenter T, Cheong HI, Cohen-Solal M, Crowley RK, Eastell R, Imanishi Y, Imel EA, Ing SW, Insogna K, Ito N, Javaid K, Kamenicky P, Keen R, Kubota T, Lachmann RH, Perwad F, Pitukcheewanont P, Portale A, Ralston SH, Tanaka H, Weber TJ, Yoo HW, Sun W, Williams A, Nixon A, Takeuchi Y. Efficacy of burosumab in adults with X-linked hypophosphatemia (XLH): a post hoc subgroup analysis of a randomized double-blind placebo-controlled phase 3 study. Calcif Tissue Int. 2022;111:409-18. [PubMed: 35927518]
• Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci U S A. 2008;105:3455-60. [PMC free article: PMC2265125] [PubMed: 18308935]
• Buck A, Prade VM, Kunzke T, Erben RG, Walch A. Spatial metabolomics reveals upregulation of several pyrophosphate-producing pathways in cortical bone of Hyp mice. JCI Insight. 2022;7:e162138. [PMC free article: PMC9714788] [PubMed: 36278488]
• Caughey AB, Krist AH, Wolff TA, Barry MJ, Henderson JT, Owens DK, Davidson KW, Simon MA, Mangione CM. USPSTF approach to addressing sex and gender when making recommendations for clinical preventive services. JAMA. 2021;326:1953-61. [PubMed: 34694343]
• 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;26:1381-8. [PMC free article: PMC3157040] [PubMed: 21538511]
• Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, Kawakami T, Ito T, Zhang X, Humphrey J, Insogna KL, Peacock M. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. J Clin Invest. 2014a;124:1587-97. [PMC free article: PMC3973088] [PubMed: 24569459]
• Carpenter KA, Davison R, Shakthivel S, Anderson KD, Ko FC, Ross RD. Sclerostin antibody improves phosphate metabolism hormones, bone formation rates, and bone mass in adult Hyp mice. Bone. 2022;154:116201. [PMC free article: PMC8671249] [PubMed: 34537437]
• Carpenter TO, Olear EA, Zhang JH, Ellis BK, Simpson CA, Cheng D, Gundberg CM, Insogna KL. Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study. J Clin Endocrinol Metab. 2014b;99:3103-11. [PMC free article: PMC4154090] [PubMed: 25029424]
• Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van't Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA. Burosumab therapy in children with X-linked hypophosphatemia. N Engl J Med. 2018;378:1987-98. [PubMed: 29791829]
• Che H, Roux C, Etcheto A, Rothenbuhler A, Kamenicky P, Linglart A, Briot K. Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. Eur J Endocrinol. 2016;174:325-33. [PubMed: 26783348]
• Chesher D, Oddy M, Darbar U, Sayal P, Casey A, Ryan A, Sechi A, Simister C, Waters A, Wedatilake Y, Lachmann RH, Murphy E. Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. J Inherit Metab Dis. 2018;41:865-76. [PMC free article: PMC6133187] [PubMed: 29460029]
• Cebeci AN, Zou M, BinEssa HA, Alzahrani AS, Al-Rijjal RA, Al-Enezi AF, Al-Mohanna FA, Cavalier E, Meyer BF, Shi Y. Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic rickets. J Clin Endocrinol Metab. 2020;105:dgz260. [PubMed: 31821448]
• Colares Neto GP, Ide Yamauchi F, Hueb Baroni R, de Andrade Bianchi M, Cavalanti Gomes A, Chammas MC, Matsunaga Martin R. Nephrocalcinosis and nephrolithiasis in X-linked hypophosphatemic rickets: diagnostic imaging and risk factors. J Endocr Soc. 2019;3:1053-61. [PMC free article: PMC6497922] [PubMed: 31065622]
• Colares Neto GP, Pereira RM, Alvarenga JC, Takayama L, Funari MF, Martin RM. Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets. Osteoporos Int. 2017;28:1685-92. [PubMed: 28194480]
• Connor J, Olear EA, Insogna KL, Katz L, Baker S, Kaur R, Simpson CA, Sterpka J, Dubrow R, Zhang JH, Carpenter TO. Conventional therapy in adults with X-linked hypophosphatemia: effects on enthesopathy and dental disease. J Clin Endocrinol Metab. 2015;100:3625-32. [PMC free article: PMC4596038] [PubMed: 26176801]
• Cundy T, Que L, Hassan IM, Hughes L. Bisphosphonate-induced deterioration of osteomalacia in undiagnosed adult Fanconi syndrome. JBMR Plus. 2020;4:e10374. [PMC free article: PMC7422711] [PubMed: 32803107]
• Dahir KM, Black M, Gottesman GS, Imel EA, Mumm S, Nichols CM, Whyte MP. X-linked hypophosphatemia caused by the prevailing North American PHEX variant c.*231A>G; exon 13-15 duplication is often misdiagnosed as ankylosing spondylitis and manifests in both men and women. JBMR Plus. 2022a;6:e10692. [PMC free article: PMC9751662] [PubMed: 36530187]
• Dahir K, Dhaliwal R, Simmons J, Imel EA, Gottesman GS, Mahan JD, Prakasam G, Hoch AI, Ramesan P, Díaz-González de Ferris M. Health care transition from pediatric- to adult-focused care in X-linked hypophosphatemia: expert consensus. J Clin Endocrinol Metab. 2022b;107:599-613. [PMC free article: PMC8852209] [PubMed: 34741521]
• David V, Martin A, Hedge AM, Drezner MK, Rowe PS. ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate. Am J Physiol Renal Physiol. 2011;300:F783-91. [PMC free article: PMC3064126] [PubMed: 21177780]
• Davies M, Stanbury S. The rheumatic manifestations of metabolic bone disease. Clin Rheum Dis. 1981;7:595-646.
• Ertl DA, Le Lorier J, Gleiss A, Trabado S, Bensignor C, Audrain C, Zhukouskaya V, Coutant R, Berkenou J, Rothenbuhler A, Haeusler G, Linglart A. Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone. Orphanet J Rare Dis. 2022;17:412. [PMC free article: PMC9652849] [PubMed: 36371259]
• Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D. Effects of burosumab treatment on mineral metabolism in children and adolescents with X-linked hypophosphatemia. J Clin Endocrinol Metab. 2023;108:e998-e1006. [PubMed: 37097907]
• Felipe Queiroz J, Sader SL, Marques Barroso C, Colares Neto GP. X-linked hypophosphatemic rickets with advanced bone age treated with aromatase inhibitor. Endocrinol Diabetes Metab Case Rep. 2023:2023;23-0005. [PMC free article: PMC10337685] [PubMed: 37140989]
• Filler G, Tremblay O, Chen E, Huang SSH, Stein R. Sex differences of burosumab in children with X-linked hypophosphataemic rickets. Pediatr Nephrol. 2023;38:3183-7. [PubMed: 36542147]
• Fratzl-Zelman N, Hartmann MA, Gamsjaeger S, Rokidi S, Paschalis EP, Blouin S, Zwerina J. Bone matrix mineralization and response to burosumab in adult patients with X-linked hypophosphatemia: results from the phase 3, single-arm international trial. J Bone Miner Res. 2022;37:1665-78. [PubMed: 35775373]
• Gadion M, Hervé A, Herrou J, Rothenbuhler A, Smail-Faugeron V, Courson F, Linglart A, Chaussain C, Biosse Duplan M. Burosumab and dental abscesses in children with X-linked hypophosphatemia. JBMR Plus. 2022;6:e10672. [PMC free article: PMC9664523] [PubMed: 36398111]
• Gale DP, Mallett A, Patel C, Sneddon TP, Rehm HL, Sampson MG, Bockenhauer D. Diagnoses of uncertain significance: kidney genetics in the 21st century. Nat Rev Nephrol. 2020;16:616-8. [PubMed: 32265521]
• Gattineni J, Bates C, Twombley K, Dwarakanath V, Robinson ML, Goetz R, Mohammadi M, Baum M. FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1. Am J Physiol Renal Physiol. 2009;297:F282-91. [PMC free article: PMC2724258] [PubMed: 19515808]
• Gaucher C, Walrant-Debray O, Nguyen TM, Esterle L, Garabédian M, Jehan F. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum Genet. 2009;125:401-11. [PubMed: 19219621]
• Goji K, Ozaki K, Sadewa AH, Nishio H, Matsuo M. Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. J Clin Endocrinol Metab. 2006;91:365-70. [PubMed: 16303832]
• Grimbly C, Ludwig K, Wu Z, Caluseriu O, Rosolowsky E, Alexander RT, Ward LM, Rauch F. X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells. Bone. 2023;176:116839. [PubMed: 37454963]
• Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15:435-55. [PMC free article: PMC7136170] [PubMed: 31068690]
• Hardy DC, Murphy WA, Siegel BA, Reid IR, Whyte MP. X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. Radiology. 1989;171:403-14. [PubMed: 2539609]
• Hartley IR, Gafni RI, Roszko KL, Brown SM, de Castro LF, Saikali A, Ferreira CR, Gahl WA, Pacak K, Blau JE, Boyce AM, Salusky IB, Collins MT, Florenzano P. Determination of FGF23 levels for the diagnosis of FGF23-mediated hypophosphatemia. J Bone Miner Res. 2022;37:2174-85. [PMC free article: PMC9712269] [PubMed: 36093861]
• Hawley S, Shaw NJ, Delmestri A, Prieto-Alhambra D, Cooper C, Pinedo-Villanueva R, Javaid MK. Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: a UK parallel cohort study using CPRD. Rheumatology (Oxford). 2021;60:4055-62. [PubMed: 33331900]
• Hawley S, Shaw NJ, Delmestri A, Prieto-Alhambra D, Cooper C, Pinedo-Villanueva R, Javaid MK. Prevalence and mortality of individuals with X-linked hypophosphatemia: a United Kingdom real-world data analysis. J Clin Endocrinol Metab. 2020;105:e871-8. [PMC free article: PMC7025948] [PubMed: 31730177]
• Hernández-Frías O, Gil-Peña H, Pérez-Roldán JM, González-Sanchez S, Ariceta G, Chocrón S, Loza R, de la Cerda Ojeda F, Madariaga L, Vergara I, Fernández-Fernández M, Ferrando-Monleón S, Antón-Gamero M, Fernández-Maseda Á, Luis-Yanes MI, Santos F. Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia. Pediatr Nephrol. 2019;34:1077-86. [PubMed: 30607568]
• Herrou J, Fechtenbaum J, Rothenbuhler A, Kamenický P, Roux C, Linglart A, Briot K. Development of spinal enthesopathies in adults with X-linked hypophosphatemia. J Clin Endocrinol Metab. 2023:108:e1524-31. [PubMed: 37390471]
• Herrou J, Picaud AS, Lassalle L, Pacot L, Chaussain C, Merzoug V, Hervé A, Gadion M, Rothenbuhler A, Kamenický P, Roux C, Linglart A, Duplan MB, Briot K. Prevalence of enthesopathies in adults with X-linked hypophosphatemia: analysis of risk factors. J Clin Endocrinol Metab. 2022;107:e224-e235. [PubMed: 34406383]
• Hidaka N, Kato H, Koga M, Katsura M, Oyama Y, Kinoshita Y, Fukumoto S, Makita N, Nangaku M, Ito N. Induction of FGF23-related hypophosphatemic osteomalacia by alcohol consumption. Bone Rep. 2021;15:101144. [PMC free article: PMC8640868] [PubMed: 34901334]
• Hoac B, Østergaard M, Wittig NK, Boukpessi T, Buss DJ, Chaussain C, Birkedal H, Murshed M, McKee MD. Genetic ablation of osteopontin in osteomalacic Hyp mice partially rescues the deficient mineralization without correcting hypophosphatemia. J Bone Miner Res. 2020;35:2032-48. [PubMed: 32501585]
• Hoffman WH, Jueppner HW, Deyoung BR, O'dorisio MS, Given KS. Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. Am J Med Genet A. 2005;134:233-6. [PubMed: 15742370]
• Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 2001;86:3889-99. [PubMed: 11502829]
• Huang SJ, Amendola LM, Sternen DL. Variation among DNA banking consent forms: points for clinicians to bank on. J Community Genet. 2022;13:389-97. [PMC free article: PMC9314484] [PubMed: 35834113]
• Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab. 2010;95:1846-50. [PMC free article: PMC2853995] [PubMed: 20157195]
• Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet. 2019;393:2416-27. [PMC free article: PMC7179969] [PubMed: 31104833]
• Imel EA, Glorieux FH, Whyte MP, Portale AA, Munns CF, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Chen A, Roberts MS, Ward LM. Burosumab vs phosphate/active Vitamin D in pediatric X-linked hypophosphatemia: a subgroup analysis by dose level. J Clin Endocrinol Metab. 2023;108:2990-8. [PMC free article: PMC10583998] [PubMed: 37084401]
• Imel EA, Zhang X, Ruppe MD, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey JS, Glorieux FH, Portale AA, Insogna K, Peacock M, Carpenter TO. Prolonged correction of serum phosphorus in adults with X-linked hypophosphatemia using monthly doses of KRN23. J Clin Endocrinol Metab. 2015;100:2565-73. [PMC free article: PMC4495171] [PubMed: 25919461]
• Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen CY, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO; AXLES 1 Investigators. A randomized, double-blind, placebo-controlled, phase 3 trial evaluating the efficacy of burosumab, an anti-FGF23 antibody, in adults with X-linked hypophosphatemia: week 24 primary analysis. J Bone Miner Res. 2018;33:1383-93. [PubMed: 29947083]
• Ishihara Y, Ohata Y, Takeyari S, Kitaoka T, Fujiwara M, Nakano Y, Yamamoto K, Yamada C, Yamamoto K, Michigami T, Mabe H, Yamaguchi T, Matsui K, Tamada I, Namba N, Yamamoto A, Etoh J, Kawaguchi A, Kosugi R, Ozono K, Kubota T. Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling. Bone. 2021;153:116135. [PubMed: 34333162]
• Jehan F, Gaucher C, Nguyen TM, Walrant-Debray O, Lahlou N, Sinding C, Déchaux M, Garabédian M. Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. J Clin Endocrinol Metab. 2008;93:4672-82. [PubMed: 18827005]
• Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, Yamamoto T, Hampson G, Koshiyama H, Ljunggren O, Oba K, Yang IM, Miyauchi A, Econs MJ, Lavigne J, Jüppner H. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med. 2003;348:1656-63. [PubMed: 12711740]
• Jørgensen CS, Poulsen VML, Sandahl M, Underbjerg L, Kristensen SB, Piec I, Beck-Nielsen SS, Rejnmark L, Birkebæk NH. Milk Products in the treatment of hypophosphatemic rickets: a pilot study. Int J Endocrinol Metab. 2019;17:e91454. [PMC free article: PMC6935710] [PubMed: 31903094]
• Kara JAS, Zange J, Hoffman F, Tank J, Jordan J, Semler O, Schönau E, Rittweger J, Seefried L. Impaired physical performance in X-linked Hypophosphatemia is not caused by depleted muscular phosphate stores. J Clin Endocrinol Metab. 2023;108:1634-45. [PubMed: 37043477]
• Karim Z, Gérard B, Bakouh N, Alili R, Leroy C, Beck L, Silve C, Planelles G, Urena-Torres P, Grandchamp B, Friedlander G, Prié D. NHERF1 mutations and responsiveness of renal parathyroid hormone. N Engl J Med. 2008;359:1128-35. [PubMed: 18784102]
• Kato H, Okawa R, Ogasawara T, Hoshino Y, Hidaka N, Koga M, Kinoshita Y, Kobayashi H, Taniguchi Y, Fukumoto S, Nangaku M, Makita N, Hoshi K, Nakano K, Ito N. Effect of conventional treatment on dental complications and ectopic ossifications among 30 Adults with XLH. J Clin Endocrinol Metab. 2023;108:1405-14. [PubMed: 36524341]
• Kinoshita Y, Hori M, Taguchi M, Fukumoto S. Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia. Bone. 2014;67:145-51. [PubMed: 25026495]
• Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J. Consensus recommendations for the diagnosis and management of X-linked hypophosphatemia in Belgium. Front Endocrinol (Lausanne). 2021;12:641543. [PMC free article: PMC8018577] [PubMed: 33815294]
• Lecoq AL, Chaumet-Riffaud P, Blanchard A, Dupeux M, Rothenbuhler A, Lambert B, Durand E, Boros E, Briot K, Silve C, Francou B, Piketty M, Chanson P, Brailly-Tabard S, Linglart A, Kamenický P. Hyperparathyroidism in patients with X-linked hypophosphatemia. J Bone Miner Res. 2020;35:1263-73. [PubMed: 32101626]
• Lin Y, Cai Y, Xu J, Zeng C, Sheng H, Yu Y, Li X, Liu L. "Isolated" germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets. Eur J Endocrinol. 2020;182:K1-K6. [PubMed: 31658436]
• Liu ES, Thoonen R, Petit E, Yu B, Buys ES, Scherrer-Crosbie M, Demay MB. Increased circulating FGF23 does not lead to cardiac hypertrophy in the male Hyp mouse model of XLH. Endocrinology. 2018;159:2165-72. [PMC free article: PMC5915960] [PubMed: 29635291]
• Macica CM, Luo J, Tommasini SM. The enthesopathy of XLH is a mechanical adaptation to osteomalacia: biomechanical evidence from Hyp mice. Calcif Tissue Int. 2022;111:313-22. [PubMed: 35618776]
• 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;88:3591-7. [PubMed: 12915641]
• Mäkitie O, Toiviainen-Salo S, Marttinen E, Kaitila I, Sochett E, Sipila I. Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets. Horm Res. 2008;69:212-20. [PubMed: 18204268]
• Marcellino A, Bloise S, Pirone C, Brandino G, Gizzone P, Fraternali R, Dilillo A, Del Giudice E, Martucci V, Sanseviero M, Rita LM, Ventriglia F, Lubrano R. Efficacy of burosumab every 2 weeks in an adult with X-Linked hypophosphatemia: should we learn from children? Monoclon Antib Immunodiagn Immunother. 2023;42:104-8. [PubMed: 37343168]
• Martin A, David V, Laurence JS, Schwarz PM, Lafer EM, Hedge AM, Rowe PS. Degradation of MEPE, DMP1, and release of SIBLING ASARM-peptides (minhibins): ASARM-peptide(s) are directly responsible for defective mineralization in HYP. Endocrinology. 2008;149:1757-72. [PMC free article: PMC2276704] [PubMed: 18162525]
• Meyerhoff N, Haffner D, Staude H, Wühl E, Marx M, Beetz R, Querfeld U, Holder M, Billing H, Rabl W, Schröder C, Hiort O, Brämswig JH, Richter-Unruh A, Schnabel D, Živičnjak M; Hypophosphatemic Rickets Study Group of the "Deutsche Gesellschaft für Kinderendokrinologie und -diabetologie" and "Gesellschaft für Pädiatrische Nephrologie". Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2018;33:447-56. [PubMed: 29058153]
• Moltz KC, Friedman AH, Nehgme RA, Kleinman CS, Carpenter TO. Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets. Curr Opin Pediatr. 2001;13:373-5. [PubMed: 11717565]
• Morey M, Castro-Feijóo L, Barreiro J, Cabanas P, Pombo M, Gil M, Bernabeu I, Díaz-Grande JM, Rey-Cordo L, Ariceta G, Rica I, Nieto J, Vilalta R, Martorell L, Vila-Cots J, Aleixandre F, Fontalba A, Soriano-Guillén L, García-Sagredo JM, García-Miñaur S, Rodríguez B, Juaristi S, García-Pardos C, Martínez-Peinado A, Millán JM, Medeira A, Moldovan O, Fernandez A, Loidi L. 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. [PMC free article: PMC3189111] [PubMed: 21902834]
• Mughal MZ, Baroncelli GI, de Lucas-Collantes C, Linglart A, Magnolato A, Raimann A, Santos F, Schnabel D, Shaw N, Nilsson O. Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries. Front Endocrinol (Lausanne). 2023;13:1034580. [PMC free article: PMC9928183] [PubMed: 36798486]
• Munns CF, Maguire EP, Williams A, Wood S, Biggin A. Craniosynostosis in patients with X-linked hypophosphatemia: a review. JBMR Plus. 2023a;7:e10728 [PMC free article: PMC10184010] [PubMed: 37197318]
• Munns CF, Yoo HW, Jalaludin MY, Vasanwala R, Chandran M, Rhee Y, But WM, Kong AP, Su PH, Numbenjapon N, Namba N, Imanishi Y, Clifton-Bligh RJ, Luo X, Xia W. Asia-Pacific Consensus recommendations on X-linked hypophosphatemia: diagnosis, multidisciplinary management, and transition from pediatric to adult care. JBMR Plus. 2023b;7:e10744. [PMC free article: PMC10241092] [PubMed: 37283655]
• Nielsen SR, Hansen SG, Bistrup C, Brusgaard K, Frederiksen AL. Bone deformities and kidney failure: coincidence of PHEX-related hypophosphatemic rickets and m.3243A>G mitochondrial disease. Calcif Tissue Int. 2022;111:641-5. [PubMed: 35916905]
• Novais E, Stevens PM. Hypophosphatemic rickets: the role of hemiepiphysiodesis. J Pediatr Orthop. 2006;26:238-44. [PubMed: 16557142]
• O'Malley SP, Adams JE, Davies M, Ramsden RT. The petrous temporal bone and deafness in X-linked hypophosphataemic osteomalacia. Clin Radiol. 1988;39:528-30. [PubMed: 3180671]
• Orlando G, Bubbear J, Clarke S, Keen R, Roy M, Anilkumar A, Schini M, Walsh JS, Javaid MK, Ireland A. Physical function and physical activity in adults with X-linked hypophosphatemia. Osteoporos Int. 2022;33:1485-91. [PubMed: 35122145]
• Owen CJ, Habeb A, Pearce SH, Wright M, Ichikawa S, Sorenson AH, Econs MJ, Cheetham TD. Discordance for X-linked hypophosphataemic rickets in identical twin girls. Horm Res. 2009;71:237-44. [PubMed: 19258716]
• Paludan CG, Thomsen KKV, Rahbek O, Kold S. Complications of orthopedic treatment in patients diagnosed with X-linked hypophosphatemic rickets. J Pediatr Endocrinol Metab. 2022;35:1003-9. [PubMed: 35700440]
• Park PG, Lim SH, Lee H, Ahn YH, Cheong HI, Kang HG. Genotype and phenotype analysis in X-linked hypophosphatemia. Front Pediatr. 2021;9:699767. [PMC free article: PMC8382157] [PubMed: 34434907]
• Pasmant E, Pacot L. Should we genotype the sperm of fathers from patients with "de novo" mutations? Eur J Endocrinol. 2020;182:C1-C3. [PubMed: 31658441]
• Payne RB. Renal tubular reabsorption of phosphate (TmP/GFR): indications and interpretation. Ann Clin Biochem. 1998;35:201-6. [PubMed: 9547891]
• Petje G, Meizer R, Radler C, Aigner N, Grill F. Deformity correction in children with hereditary hypophosphatemic rickets. Clin Orthop Relat Res. 2008;466:3078-85. [PMC free article: PMC2628230] [PubMed: 18841431]
• Polisson RP, Martinez S, Khoury M, Harrell RM, Lyles KW, Friedman N, Harrelson JM, Reisner E, Drezner MK. Calcification of entheses associated with X-linked hypophosphatemic osteomalacia. N Engl J Med. 1985;313:1-6. [PubMed: 4000222]
• Popowska E, Pronicka E, Sułek A, Jurkiewicz D, Rowińska E, Sykut-Cegielska J, Rump Z, Arasimowicz E, Krajewska-Walasek M. X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation. J Appl Genet. 2001;42:73-88. [PubMed: 14564066]
• Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan De Beur S, Eastell R, Imanishi Y, Imel EA, Ing S, Ito N, Javaid M, Kamenicky P, Keen R, Kubota T, Lachmann R, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K. Continued beneficial effects of burosumab in adults with X-linked hypophosphatemia: results from a 24-Week treatment continuation period after a 24-Week double-blind placebo-controlled period. Calcif Tissue Int. 2019;105:271-84. [PubMed: 31165191]
• Prié D, Huart V, Bakouh N, Planelles G, Dellis O, Gérard B, Hulin P, Benqué-Blanchet F, Silve C, Grandchamp B, Friedlander G. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med. 2002;347:983-91. [PubMed: 12324554]
• Pronicka E, Popowska E, Rowińska E, Arasimowicz E, Syczewska M, Jurkiewicz D, Lebiedowski M. Anthropometric characteristics of X-linked hypophosphatemia. Am J Med Genet A. 2004;126A:141-9. [PubMed: 15057978]
• Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol. 2016;174:125-36. [PMC free article: PMC4674593] [PubMed: 26543054]
• Rana R, Baker JT, Sorsby M, Jagga S, Venkat S, Almardini S, Liu ES. Impaired 1,25 dihydroxyvitamin D action underlies enthesopathy development in the Hyp mouse model of XLH. JCI Insight. 2023;8:e163259. [PMC free article: PMC10544216] [PubMed: 37490334]
• Reid IR, Hardy DC, Murphy WA, Teitelbaum SL, Bergfeld MA, Whyte MP. X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. Medicine (Baltimore). 1989;68:336-52. [PubMed: 2811660]
• Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-24. [PMC free article: PMC4544753] [PubMed: 25741868]
• Rodríguez-Rubio E, Gil-Peña H, Chocron S, Madariaga L, de la Cerda-Ojeda F, Fernández-Fernández M, de Lucas-Collantes C, Gil M, Luis-Yanes MI, Vergara I, González-Rodríguez JD, Ferrando S, Antón-Gamero M, Carrasco Hidalgo-Barquero M, Fernández-Escribano A, Fernández-Maseda MÁ, Espinosa L, Oliet A, Vicente A, Ariceta G, Santos F; RenalTubeGroup. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population. Orphanet J Rare Dis. 2021;16:104. [PMC free article: PMC7912818] [PubMed: 33639975]
• Rothenbuhler A, Esterle L, Gueorguieva I, Salles JP, Mignot B, Colle M, Linglart A. 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 Horm IGF Res. 2017;36:11-5. [PubMed: 28822957]
• Rothenbuhler A, Fadel N, Debza Y, Bacchetta J, Diallo MT, Adamsbaum C, Linglart A, Di Rocco F. High incidence of cranial synostosis and Chiari I malformation in children with X-linked hypophosphatemic rickets (XLHR). J Bone Miner Res. 2019;34:490-6. [PMC free article: PMC7816089] [PubMed: 30352126]
• Ruppe MD, Zhang X, Imel EA, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey JS, Glorieux FH, Portale AA, Insogna K, Peacock M, Carpenter TO. Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia. Bone Rep. 2016;5:158-62. [PMC free article: PMC4926842] [PubMed: 28326356]
• Sabbagh Y, Tenenhouse HS, Econs MJ, Auricchio A. Mendelian hypophosphatemias. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G, eds. The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). New York, NY: McGraw-Hill. Chap 197. 2014.
• Sandy JL, Nunez C, Wheeler BJ, Jefferies C, Morris A, Siafarikas A, Rodda CP, Simm P, Biggin A, Aum S, Elliot EJ, Munns CF. Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand: results from the Australian and the New Zealand Paediatric Surveillance Units survey. Bone. 2023;173:116791. [PubMed: 37263386]
• 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. [PubMed: 14769584]
• Scorcelletti M, Kara S, Zange J, Jordan J, Semler O, Schönau E, Rittweger J, Ireland A, Seefried L. Lower limb bone geometry in adult individuals with X-linked hypophosphatemia: an observational study. Osteoporos Int. 2022;33:1601-11. [PMC free article: PMC9187561] [PubMed: 35435480]
• Seefried L, Duplan MB, Briot K, Collins MT, Evans R, Florenzano P, Hawkins N, Javaid MK, Lachmann R, Ward LM. Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives. Front Endocrinol (Lausanne). 2023;14:1211426. [PMC free article: PMC10400326] [PubMed: 37547321]
• Seefried L, Smyth M, Keen R, Harvengt P. Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review. Osteoporos Int. 2021;32:7-22. [PMC free article: PMC7755619] [PubMed: 32710160]
• Segawa H, Yamanaka S, Ohno Y, Onitsuka A, Shiozawa K, Aranami F, Furutani J, Tomoe Y, Ito M, Kuwahata M, Imura A, Nabeshima Y, Miyamoto K. Correlation between hyperphosphatemia and type II Na-Pi cotransporter activity in klotho mice. Am J Physiol Renal Physiol. 2007;292:F769-79. [PubMed: 16985213]
• Seikaly M, Browne R, Baum M. Nephrocalcinosis is associated with renal tubular acidosis in children with X-linked hypophosphatemia. Pediatrics. 1996;97:91-3. [PubMed: 8545232]
• Shanbhogue VV, Hansen S, Jørgensen NR, Beck-Nielsen SS. Impact of conventional medical therapy on bone mineral density and bone turnover in adult patients with X-linked hypophosphatemia: a 6-year prospective cohort study. Calcif Tissue Int. 2018;102:321-8. [PubMed: 29143140]
• Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, Fujita T, Nakahara K, Fukumoto S, Yamashita T. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res. 2004;19:429-35. [PubMed: 15040831]
• Skrinar A, Dvorak-Ewell M, Evins A, Macica C, Linglart A, Imel EA, Theodore-Oklota C, San Martin J. The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey. J Endocr Soc. 2019;3:1321-34. [PMC free article: PMC6595532] [PubMed: 31259293]
• Song HR, Park JW, Cho DY, Yang JH, Yoon HR, Jung SC. PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets. J Korean Med Sci. 2007;22:981-6. [PMC free article: PMC2694264] [PubMed: 18162710]
• Song HR, Soma Raju VV, Kumar S, Lee SH, Suh SW, Kim JR, Hong JS. Deformity correction by external fixation and/or intramedullary nailing in hypophosphatemic rickets. Acta Orthop. 2006;77:307-14. [PubMed: 16752295]
• Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Hum Genet. 2020;139:1197-207. [PMC free article: PMC7497289] [PubMed: 32596782]
• Sullivan R, Abraham A, Simpson C, Olear E, Carpenter T, Deng Y, Chen C, Insogna KL. Three-month randomized clinical trial of nasal calcitonin in adults with X-linked hypophosphatemia. Calcif Tissue Int. 2018;102:666-70. [PMC free article: PMC5957766] [PubMed: 29383408]
• Trombetti A, Al-Daghri N, Brandi ML, Cannata-Andía JB, Cavalier E, Chandran M, Chaussain C, Cipullo L, Cooper C, Haffner D, Harvengt P, Harvey NC, Javaid MK, Jiwa F, Kanis JA, Laslop A, Laurent MR, Linglart A, Marques A, Mindler GT, Minisola S, Yerro MCP, Rosa MM, Seefried L, Vlaskovska M, Zanchetta MB, Rizzoli R. Interdisciplinary management of FGF23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia. Nat Rev Endocrinol. 2022;18:366-84. [PubMed: 35484227]
• Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023;191:1164-209. [PMC free article: PMC10081954] [PubMed: 36779427]
• Vera CL, Cure JK, Naso WB, Gelven PL, Worsham F, Roof BF, Resnick D, Salinas CF, Gross JA, Pacult A. Paraplegia due to ossification of ligamenta flava in X-linked hypophosphatemia. A case report. Spine. 1997;22:710-5. [PubMed: 9089946]
• Walker EYX, Lindsay TAJ, Allgrove J, Marlais M, Bockenhauer D, Hayes W. Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels. Arch Dis Child. 2023;108:379-84. [PubMed: 36717209]
• Walton RJ, Bijvoet OL. Nomogram for derivation of renal threshold phosphate concentration. Lancet. 1975;2:309-10. [PubMed: 50513]
• Weber TJ, Liu S, Indridason OS, Quarles LD. Serum FGF23 levels in normal and disordered phosphorus homeostasis. J Bone Miner Res. 2003;18:1227-34. [PubMed: 12854832]
• Whyte MP, Carpenter TO, Gottesman GS, Mao M, Skrinar A, San Martin J, Imel EA. 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. [PubMed: 30638856]
• Zhang C, Zhao Z, Sun Y, Xu L, JiaJue R, Cui L, Pang Q, Jiang Y, Li M, Wang O, He X, He S, Nie M, Xing X, Meng X, Zhou X, Yan L, Kaplan JM, Insogna KL, Xia W. Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. Bone. 2019;121:212-20. [PubMed: 30682568]
• Zhukouskaya VV, Mannes I, Chaussain C, Kamenický P, Audrain C, Lambert AS, Nevoux J, Wicart P, Briot K, Di Rocco F, Trabado S, Prié D, Di Somma C, Colao A, Adamsbaum C, Rothenbuhler A, Linglart A. Magnetic resonance imaging is a valuable tool to evaluate the therapeutic efficacy of burosumab in children with X-linked hypophosphatemia. Eur J Endocrinol. 2021;185:475-84. [PubMed: 34292170]
• Zhukouskaya VV, Rothenbuhler A, Colao A, Di Somma C, Kamenický P, Trabado S, Prié D, Audrain C, Barosi A, Kyheng C, Lambert AS, Linglart A. Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia. Endocr Connect. 2020;9:144-53. [PMC free article: PMC6993252] [PubMed: 31910157]
• Zivičnjak M, Schnabel D, Billing H, Staude H, Filler G, Querfeld U, Schumacher M, Pyper A, Schröder C, Brämswig J, Haffner D; Hypophosphatemic Rickets Study Group of Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie. Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2011;26:223-31. [PubMed: 21120538]