메뉴 건너뛰기




Volumn 13, Issue 2, 2015, Pages 88-97

Hypophosphatemic Rickets: Lessons from Disrupted FGF23 Control of Phosphorus Homeostasis

Author keywords

Bone; FGF23; Osteomalacia; Phosphate; Rickets

Indexed keywords

CALCITRIOL; CINACALCET; FIBROBLAST GROWTH FACTOR 23; PHOSPHATE; PHOSPHORUS; CALCITONIN; FIBROBLAST GROWTH FACTOR;

EID: 84925535455     PISSN: 15441873     EISSN: 15442241     Source Type: Journal    
DOI: 10.1007/s11914-015-0259-y     Document Type: Review
Times cited : (50)

References (85)
  • 1
    • 0002299353 scopus 로고
    • A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature
    • PID: 13565132
    • Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH. A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. Medicine. 1958;37:97–142.
    • (1958) Medicine , vol.37 , pp. 97-142
    • Winters, R.W.1    Graham, J.B.2    Williams, T.F.3    McFalls, V.W.4    Burnett, C.H.5
  • 2
    • 0029160578 scopus 로고
    • A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
    • The HYP Consortium. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet. 1995;11:130–6.
    • (1995) Nat Genet , vol.11 , pp. 130-136
  • 3
    • 0033763097 scopus 로고    scopus 로고
    • Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
    • White KE. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000;26:345–8.
    • (2000) Nat Genet , vol.26 , pp. 345-348
    • White, K.E.1
  • 4
    • 34547443884 scopus 로고    scopus 로고
    • Evidence for a signaling axis by which intestinal phosphate rapidly modulates renal phosphate reabsorption
    • PID: 17566100
    • Berndt T, Thomas LF, Craig TA, Sommer S, Li X, Bergstralh EJ, et al. Evidence for a signaling axis by which intestinal phosphate rapidly modulates renal phosphate reabsorption. Proc Natl Acad Sci U S A. 2007;104:11085–90.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 11085-11090
    • Berndt, T.1    Thomas, L.F.2    Craig, T.A.3    Sommer, S.4    Li, X.5    Bergstralh, E.J.6
  • 5
    • 0022449956 scopus 로고
    • Intestinal phosphate absorption: influence of vitamin D and non-vitamin D factors
    • PID: 2420210
    • Lee DB, Walling MW, Brautbar N. Intestinal phosphate absorption: influence of vitamin D and non-vitamin D factors. Am J Physiol. 1986;250:G369–73.
    • (1986) Am J Physiol , vol.250 , pp. 369-373
    • Lee, D.B.1    Walling, M.W.2    Brautbar, N.3
  • 7
    • 77955362086 scopus 로고    scopus 로고
    • Phosphate homeostasis and the renal-gastrointestinal axis
    • PID: 20534868
    • Marks J, Debnam ES, Unwin RJ. Phosphate homeostasis and the renal-gastrointestinal axis. Am J Physiol Renal Physiol. 2010;299:F285–96.
    • (2010) Am J Physiol Renal Physiol , vol.299 , pp. 285-296
    • Marks, J.1    Debnam, E.S.2    Unwin, R.J.3
  • 8
    • 65949096839 scopus 로고    scopus 로고
    • The Na+-Pi cotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary Pi
    • PID: 19073637
    • Villa-Bellosta R, Ravera S, Sorribas V, Stange G, Levi M, Murer H, et al. The Na+-Pi cotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary Pi. Am J Physiol Renal Physiol. 2009;296:F691–9.
    • (2009) Am J Physiol Renal Physiol , vol.296 , pp. 691-699
    • Villa-Bellosta, R.1    Ravera, S.2    Sorribas, V.3    Stange, G.4    Levi, M.5    Murer, H.6
  • 9
    • 0032760711 scopus 로고    scopus 로고
    • Posttranscriptional regulation of the proximal tubule NaPi-II transporter in response to PTH and dietary P(i)
    • PID: 10564230
    • Murer H, Forster I, Hernando N, Lambert G, Traebert M, Biber J. Posttranscriptional regulation of the proximal tubule NaPi-II transporter in response to PTH and dietary P(i). Am J Physiol. 1999;277:F676–84.
    • (1999) Am J Physiol , vol.277 , pp. 676-684
    • Murer, H.1    Forster, I.2    Hernando, N.3    Lambert, G.4    Traebert, M.5    Biber, J.6
  • 11
    • 0030004088 scopus 로고    scopus 로고
    • In vivo suppression of the renal Na+/Pi cotransporter by antisense oligonucleotides
    • PID: 8643501
    • Oberbauer R, Schreiner GF, Biber J, Murer H, Meyer TW. In vivo suppression of the renal Na+/Pi cotransporter by antisense oligonucleotides. Proc Natl Acad Sci U S A. 1996;93:4903–6.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 4903-4906
    • Oberbauer, R.1    Schreiner, G.F.2    Biber, J.3    Murer, H.4    Meyer, T.W.5
  • 12
    • 0032574725 scopus 로고    scopus 로고
    • Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities
    • PID: 9560283
    • Beck L, Karaplis AC, Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS. Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci U S A. 1998;95:5372–7.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 5372-5377
    • Beck, L.1    Karaplis, A.C.2    Amizuka, N.3    Hewson, A.S.4    Ozawa, H.5    Tenenhouse, H.S.6
  • 13
    • 0032743354 scopus 로고    scopus 로고
    • Effects of Npt2 gene ablation and low-phosphate diet on renal Na(+)/phosphate cotransport and cotransporter gene expression
    • PID: 10491403
    • Hoag HM, Martel J, Gauthier C, Tenenhouse HS. Effects of Npt2 gene ablation and low-phosphate diet on renal Na(+)/phosphate cotransport and cotransporter gene expression. J Clin Invest. 1999;104:679–86.
    • (1999) J Clin Invest , vol.104 , pp. 679-686
    • Hoag, H.M.1    Martel, J.2    Gauthier, C.3    Tenenhouse, H.S.4
  • 14
    • 31544481921 scopus 로고    scopus 로고
    • SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis
    • PID: 16358214
    • Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, et al. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet. 2006;78:179–92.
    • (2006) Am J Hum Genet , vol.78 , pp. 179-192
    • Bergwitz, C.1    Roslin, N.M.2    Tieder, M.3    Loredo-Osti, J.C.4    Bastepe, M.5    Abu-Zahra, H.6
  • 15
    • 84873672293 scopus 로고    scopus 로고
    • Phosphate transporters and their function
    • PID: 23398154, Reviews the regulation of phosphate absorption in the kidney through NaPi-IIa and NaPi-IIc cotransporters
    • Biber J, Hernando N, Forster I. Phosphate transporters and their function. Annu Rev Physiol. 2013;75:535–50. Reviews the regulation of phosphate absorption in the kidney through NaPi-IIa and NaPi-IIc cotransporters.
    • (2013) Annu Rev Physiol , vol.75 , pp. 535-550
    • Biber, J.1    Hernando, N.2    Forster, I.3
  • 16
    • 0030938927 scopus 로고    scopus 로고
    • Pex/PEX tissue distribution and evidence for a deletion in the 3′ region of the Pex gene in X-linked hypophosphatemic mice
    • PID: 9077527
    • Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Goodyer CG, et al. Pex/PEX tissue distribution and evidence for a deletion in the 3′ region of the Pex gene in X-linked hypophosphatemic mice. J Clin Invest. 1997;99:1200–9.
    • (1997) J Clin Invest , vol.99 , pp. 1200-1209
    • Beck, L.1    Soumounou, Y.2    Martel, J.3    Krishnamurthy, G.4    Gauthier, C.5    Goodyer, C.G.6
  • 17
    • 20244368616 scopus 로고    scopus 로고
    • Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia
    • PID: 12711740
    • Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, et al. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med. 2003;348:1656–63.
    • (2003) N Engl J Med , vol.348 , pp. 1656-1663
    • Jonsson, K.B.1    Zahradnik, R.2    Larsson, T.3    White, K.E.4    Sugimoto, T.5    Imanishi, Y.6
  • 18
    • 18744371012 scopus 로고    scopus 로고
    • Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia
    • PID: 12414858
    • Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, et al. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab. 2002;87:4957–60.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4957-4960
    • Yamazaki, Y.1    Okazaki, R.2    Shibata, M.3    Hasegawa, Y.4    Satoh, K.5    Tajima, T.6
  • 19
    • 0141844575 scopus 로고    scopus 로고
    • Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX
    • PID: 12874285
    • Liu S, Guo R, Simpson LG, Xiao ZS, Burnham CE, Quarles LD. Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem. 2003;278:37419–26.
    • (2003) J Biol Chem , vol.278 , pp. 37419-37426
    • Liu, S.1    Guo, R.2    Simpson, L.G.3    Xiao, Z.S.4    Burnham, C.E.5    Quarles, L.D.6
  • 20
    • 0029864404 scopus 로고    scopus 로고
    • Renal Na(+)-phosphate cotransporter gene expression in X-linked Hyp and Gy mice
    • PID: 8691720
    • Tenenhouse HS, Beck L. Renal Na(+)-phosphate cotransporter gene expression in X-linked Hyp and Gy mice. Kidney Int. 1996;49(4):1027–32.
    • (1996) Kidney Int , vol.49 , Issue.4 , pp. 1027-1032
    • Tenenhouse, H.S.1    Beck, L.2
  • 22
    • 36049037977 scopus 로고    scopus 로고
    • Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro
    • PID: 17699549
    • Perwad F, Zhang MY, Tenenhouse HS, Portale AA. Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro. Am J Physiol Renal Physiol. 2007;293:F1577–83.
    • (2007) Am J Physiol Renal Physiol , vol.293 , pp. 1577-1583
    • Perwad, F.1    Zhang, M.Y.2    Tenenhouse, H.S.3    Portale, A.A.4
  • 23
    • 2142746439 scopus 로고    scopus 로고
    • FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis
    • PID: 15040831
    • Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, et al. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res. 2004;19:429–35.
    • (2004) J Bone Miner Res , vol.19 , pp. 429-435
    • Shimada, T.1    Hasegawa, H.2    Yamazaki, Y.3    Muto, T.4    Hino, R.5    Takeuchi, Y.6
  • 24
    • 79959496042 scopus 로고    scopus 로고
    • A clinician’s guide to X-linked hypophosphatemia
    • PID: 21538511, Reviews clinical and biochemical features of XLH. Discusses current treatment and monitoring recommendations for individuals with XLH
    • Carpenter TO, Imel EA, Holm IA, de Beur SM J, Insogna KL. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26:1381–8. Reviews clinical and biochemical features of XLH. Discusses current treatment and monitoring recommendations for individuals with XLH.
    • (2011) J Bone Miner Res , vol.26 , pp. 1381-1388
    • Carpenter, T.O.1    Imel, E.A.2    Holm, I.A.3    de Beur SM, J.4    Insogna, K.L.5
  • 25
    • 0014515898 scopus 로고
    • Familial hypophosphatemic vitamin D resistant rickets. The neonatal period and infancy
    • PID: 5783409
    • Stickler GB. Familial hypophosphatemic vitamin D resistant rickets. The neonatal period and infancy. Acta Paediatr Scand. 1969;58:213–9.
    • (1969) Acta Paediatr Scand , vol.58 , pp. 213-219
    • Stickler, G.B.1
  • 26
    • 0014663774 scopus 로고
    • Growth in familial hypophosphatemic vitamin-D-resistant rickets
    • PID: 5800510
    • McNair SL, Stickler GB. Growth in familial hypophosphatemic vitamin-D-resistant rickets. N Engl J Med. 1969;281:512–6.
    • (1969) N Engl J Med , vol.281 , pp. 512-516
    • McNair, S.L.1    Stickler, G.B.2
  • 27
    • 0006155623 scopus 로고
    • A unique histological feature of vitamin D resistant rickets observed in four cases
    • PID: 14089274
    • Frost HM. A unique histological feature of vitamin D resistant rickets observed in four cases. Acta Orthop Scand. 1963;33:220–6.
    • (1963) Acta Orthop Scand , vol.33 , pp. 220-226
    • Frost, H.M.1
  • 28
    • 0024450540 scopus 로고
    • X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults
    • PID: 2811660
    • 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. 1989;68:336–52.
    • (1989) Medicine , vol.68 , pp. 336-352
    • Reid, I.R.1    Hardy, D.C.2    Murphy, W.A.3    Teitelbaum, S.L.4    Bergfeld, M.A.5    Whyte, M.P.6
  • 29
    • 0020436987 scopus 로고
    • Bone histomorphometry in asymptomatic adults with hereditary hypophosphatemic vitamin D-resistant osteomalacia
    • PID: 6304450
    • Marie PJ, Glorieux FH. Bone histomorphometry in asymptomatic adults with hereditary hypophosphatemic vitamin D-resistant osteomalacia. Metab Bone Dis Relat Res. 1982;4:249–53.
    • (1982) Metab Bone Dis Relat Res , vol.4 , pp. 249-253
    • Marie, P.J.1    Glorieux, F.H.2
  • 30
    • 0019347758 scopus 로고
    • Histomorphometric study of bone remodeling in hypophosphatemic vitamin D-resistant rickets
    • PID: 6267414
    • Marie PJ, Glorieux FH. Histomorphometric study of bone remodeling in hypophosphatemic vitamin D-resistant rickets. Metab Bone Dis Relat Res. 1981;3:31–8.
    • (1981) Metab Bone Dis Relat Res , vol.3 , pp. 31-38
    • Marie, P.J.1    Glorieux, F.H.2
  • 31
    • 0023959326 scopus 로고
    • Structural deformities of deciduous teeth in patients with hypophosphatemic vitamin D-resistant rickets
    • PID: 2830573
    • Abe K, Ooshima T, Lily TS, Yasufuku Y, Sobue S. Structural deformities of deciduous teeth in patients with hypophosphatemic vitamin D-resistant rickets. Oral Surg Oral Med Oral Pathol. 1988;65:191–8.
    • (1988) Oral Surg. Oral Med. Oral Pathol , vol.65 , pp. 191-198
    • Abe, K.1    Ooshima, T.2    Lily, T.S.3    Yasufuku, Y.4    Sobue, S.5
  • 32
    • 0030209217 scopus 로고    scopus 로고
    • Pathohistology of undecalcified primary teeth in vitamin D-resistant rickets: review and report of two cases
    • PID: 8863313
    • Hillmann G, Geurtsen W. Pathohistology of undecalcified primary teeth in vitamin D-resistant rickets: review and report of two cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1996;82:218–24.
    • (1996) Oral Surg Oral Med Oral Pathol Oral Radiol Endod , vol.82 , pp. 218-224
    • Hillmann, G.1    Geurtsen, W.2
  • 33
    • 0025931565 scopus 로고
    • Scanning electron microscopic analysis of dentin in vitamin D-resistant rickets—assessment of mineralization and correlation with clinical findings
    • PID: 1658752
    • Seeto E, Seow WK. Scanning electron microscopic analysis of dentin in vitamin D-resistant rickets—assessment of mineralization and correlation with clinical findings. Pediatr Dent. 1991;13:43–8.
    • (1991) Pediatr Dent , vol.13 , pp. 43-48
    • Seeto, E.1    Seow, W.K.2
  • 34
    • 0024726897 scopus 로고
    • Micromorphologic features of dentin in vitamin D-resistant rickets: correlation with clinical grading of severity
    • PID: 2561614
    • Seow WK, Romaniuk K, Sclavos S. Micromorphologic features of dentin in vitamin D-resistant rickets: correlation with clinical grading of severity. Pediatr Dent. 1989;11:203–8.
    • (1989) Pediatr Dent , vol.11 , pp. 203-208
    • Seow, W.K.1    Romaniuk, K.2    Sclavos, S.3
  • 35
    • 69549086356 scopus 로고    scopus 로고
    • Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice
    • PID: 19609735
    • Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. Calcif Tissue Int. 2009;85:235–46.
    • (2009) Calcif Tissue Int , vol.85 , pp. 235-246
    • Liang, G.1    Katz, L.D.2    Insogna, K.L.3    Carpenter, T.O.4    Macica, C.M.5
  • 37
    • 79960420149 scopus 로고    scopus 로고
    • An atypical degenerative osteoarthropathy in Hyp mice is characterized by a loss in the mineralized zone of articular cartilage
    • PID: 21643724
    • Liang G, Vanhouten J, Macica CM. An atypical degenerative osteoarthropathy in Hyp mice is characterized by a loss in the mineralized zone of articular cartilage. Calcif Tissue Int. 2011;89:151–62.
    • (2011) Calcif Tissue Int , vol.89 , pp. 151-162
    • Liang, G.1    Vanhouten, J.2    Macica, C.M.3
  • 39
    • 10744222522 scopus 로고    scopus 로고
    • New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice
    • PID: 15029877
    • Lorenz-Depiereux B, Guido VE, Johnson KR, Zheng QY, Gagnon LH, Bauschatz JD, et al. New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. Mamm Genome. 2004;15:151–61.
    • (2004) Mamm Genome , vol.15 , pp. 151-161
    • Lorenz-Depiereux, B.1    Guido, V.E.2    Johnson, K.R.3    Zheng, Q.Y.4    Gagnon, L.H.5    Bauschatz, J.D.6
  • 41
    • 0041382544 scopus 로고    scopus 로고
    • Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets
    • PID: 12915641
    • Makitie 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.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 3591-3597
    • Makitie, O.1    Doria, A.2    Kooh, S.W.3    Cole, W.G.4    Daneman, A.5    Sochett, E.6
  • 43
    • 0026757482 scopus 로고
    • A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets
    • PID: 1517380
    • Sullivan W, Carpenter T, Glorieux F, Travers R, Insogna K. A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 1992;75:879–85.
    • (1992) J Clin Endocrinol Metab , vol.75 , pp. 879-885
    • Sullivan, W.1    Carpenter, T.2    Glorieux, F.3    Travers, R.4    Insogna, K.5
  • 44
    • 0030781374 scopus 로고    scopus 로고
    • The effect of recombinant human growth hormone in children with X-linked hypophosphatemia
    • PID: 9346990
    • Seikaly MG, Brown R, Baum M. The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. Pediatrics. 1997;100:879–84.
    • (1997) Pediatrics , vol.100 , pp. 879-884
    • Seikaly, M.G.1    Brown, R.2    Baum, M.3
  • 45
    • 0029099464 scopus 로고
    • Disproportionate growth following long-term growth hormone treatment in short children with X-linked hypophosphataemia
    • PID: 7588957
    • Haffner D, Wuhl E, Blum WF, Schaefer F, Mehls O. Disproportionate growth following long-term growth hormone treatment in short children with X-linked hypophosphataemia. Eur J Pediatr. 1995;154:610–3.
    • (1995) Eur J Pediatr , vol.154 , pp. 610-613
    • Haffner, D.1    Wuhl, E.2    Blum, W.F.3    Schaefer, F.4    Mehls, O.5
  • 47
    • 84925495160 scopus 로고    scopus 로고
    • Three-year successful cinacalcet treatment of secondary hyperparathyroidism in a patient with x-linked dominant hypophosphatemic rickets: a case report
    • PID: 24660072
    • Grove-Laugesen D, Rejnmark L. Three-year successful cinacalcet treatment of secondary hyperparathyroidism in a patient with x-linked dominant hypophosphatemic rickets: a case report. Case Rep Endocrinol. 2014;2014:479641.
    • (2014) Case Rep Endocrinol , vol.2014 , pp. 479641
    • Grove-Laugesen, D.1    Rejnmark, L.2
  • 48
    • 84907210974 scopus 로고    scopus 로고
    • Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study
    • PID: 25029424, Reports results from a clinical trial using Paricalcitol to treat secondary hyperparathyroidism in XLH
    • Carpenter TO, Olear EA, Zhang JH, Ellis BK, Simpson CA, Cheng D, et al. Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study. J Clin Endocrinol Metab. 2014;99:3103–11. Reports results from a clinical trial using Paricalcitol to treat secondary hyperparathyroidism in XLH.
    • (2014) J Clin Endocrinol Metab , vol.99 , pp. 3103-3111
    • Carpenter, T.O.1    Olear, E.A.2    Zhang, J.H.3    Ellis, B.K.4    Simpson, C.A.5    Cheng, D.6
  • 49
    • 0021844218 scopus 로고
    • Effects of hydrochlorothiazide and amiloride in renal hypophosphatemic rickets
    • PID: 3885156
    • Alon U, Chan JC. Effects of hydrochlorothiazide and amiloride in renal hypophosphatemic rickets. Pediatrics. 1985;75:754–63.
    • (1985) Pediatrics , vol.75 , pp. 754-763
    • Alon, U.1    Chan, J.C.2
  • 50
    • 73949119246 scopus 로고    scopus 로고
    • Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia
    • PID: 19419316
    • Aono Y, Yamazaki Y, Yasutake J, Kawata T, Hasegawa H, Urakawa I, et al. Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia. J Bone Miner Res. 2009;24:1879–88.
    • (2009) J Bone Miner Res , vol.24 , pp. 1879-1888
    • Aono, Y.1    Yamazaki, Y.2    Yasutake, J.3    Kawata, T.4    Hasegawa, H.5    Urakawa, I.6
  • 51
    • 84897560527 scopus 로고    scopus 로고
    • Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia
    • PID: 24569459, Reports results from a clinical trial using anti-FGF23 antibody to treat XLH by targeting the underlying disease-causing mechanism, FGF23 excess
    • 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. Reports results from a clinical trial using anti-FGF23 antibody to treat XLH by targeting the underlying disease-causing mechanism, FGF23 excess.
    • (2014) J Clin Invest , vol.124 , pp. 1587-1597
    • Carpenter, T.O.1    Imel, E.A.2    Ruppe, M.D.3    Weber, T.J.4    Klausner, M.A.5    Wooddell, M.M.6
  • 54
    • 18444375871 scopus 로고    scopus 로고
    • Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo
    • PID: 12130585
    • Shimada T, Muto T, Urakawa I, Yoneya T, Yamazaki Y, Okawa K, et al. Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology. 2002;143:3179–82.
    • (2002) Endocrinology , vol.143 , pp. 3179-3182
    • Shimada, T.1    Muto, T.2    Urakawa, I.3    Yoneya, T.4    Yamazaki, Y.5    Okawa, K.6
  • 55
    • 34249664523 scopus 로고    scopus 로고
    • FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets
    • PID: 17227222
    • Imel EA, Hui SL, Econs MJ. FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res. 2007;22:520–6.
    • (2007) J Bone Miner Res , vol.22 , pp. 520-526
    • Imel, E.A.1    Hui, S.L.2    Econs, M.J.3
  • 56
    • 0031035615 scopus 로고    scopus 로고
    • Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder
    • PID: 9024275
    • Econs MJ, McEnery PT. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab. 1997;82:674–81.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 674-681
    • Econs, M.J.1    McEnery, P.T.2
  • 57
    • 81755163635 scopus 로고    scopus 로고
    • Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice
    • PID: 22006328
    • Farrow EG, Yu X, Summers LJ, Davis SI, Fleet JC, Allen MR, et al. Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice. Proc Natl Acad Sci U S A. 2011;108:E1146–55.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 1146-1155
    • Farrow, E.G.1    Yu, X.2    Summers, L.J.3    Davis, S.I.4    Fleet, J.C.5    Allen, M.R.6
  • 58
    • 80655147297 scopus 로고    scopus 로고
    • Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans
    • PID: 21880793
    • Imel EA, Peacock M, Gray AK, Padgett LR, Hui SL, Econs MJ. Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans. J Clin Endocrinol Metab. 2011;96:3541–9.
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. 3541-3549
    • Imel, E.A.1    Peacock, M.2    Gray, A.K.3    Padgett, L.R.4    Hui, S.L.5    Econs, M.J.6
  • 59
    • 33750454816 scopus 로고    scopus 로고
    • Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
    • PID: 17033621
    • Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet. 2006;38:1310–5.
    • (2006) Nat Genet , vol.38 , pp. 1310-1315
    • Feng, J.Q.1    Ward, L.M.2    Liu, S.3    Lu, Y.4    Xie, Y.5    Yuan, B.6
  • 60
    • 33750427897 scopus 로고    scopus 로고
    • DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
    • PID: 17033625
    • Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet. 2006;38:1248–50.
    • (2006) Nat Genet , vol.38 , pp. 1248-1250
    • Lorenz-Depiereux, B.1    Bastepe, M.2    Benet-Pages, A.3    Amyere, M.4    Wagenstaller, J.5    Muller-Barth, U.6
  • 61
    • 0018094534 scopus 로고
    • Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases
    • PID: 681423
    • Perry W, Stamp TC. Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases. J Bone Joint Surg Br. 1978;60-B:430–4.
    • (1978) J Bone Joint Surg Br , vol.60-B , pp. 430-434
    • Perry, W.1    Stamp, T.C.2
  • 62
    • 76049105171 scopus 로고    scopus 로고
    • Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets
    • PID: 20137773
    • Lorenz-Depiereux B, Schnabel D, Tiosano D, Hausler G, Strom TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010;86:267–72.
    • (2010) Am J Hum Genet , vol.86 , pp. 267-272
    • Lorenz-Depiereux, B.1    Schnabel, D.2    Tiosano, D.3    Hausler, G.4    Strom, T.M.5
  • 63
    • 76049121613 scopus 로고    scopus 로고
    • Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene
    • PID: 20137772
    • Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010;86:273–8.
    • (2010) Am J Hum Genet , vol.86 , pp. 273-278
    • Levy-Litan, V.1    Hershkovitz, E.2    Avizov, L.3    Leventhal, N.4    Bercovich, D.5    Chalifa-Caspi, V.6
  • 64
    • 0042166167 scopus 로고    scopus 로고
    • Mutations in ENPP1 are associated with ‘idiopathic’ infantile arterial calcification
    • PID: 12881724
    • Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Hohne W, et al. Mutations in ENPP1 are associated with ‘idiopathic’ infantile arterial calcification. Nat Genet. 2003;34:379–81.
    • (2003) Nat Genet , vol.34 , pp. 379-381
    • Rutsch, F.1    Ruf, N.2    Vaingankar, S.3    Toliat, M.R.4    Suk, A.5    Hohne, W.6
  • 65
    • 17744395066 scopus 로고    scopus 로고
    • The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting
    • PID: 11157998
    • White KE, Jonsson KB, Carn G, Hampson G, Spector TD, Mannstadt M, et al. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab. 2001;86:497–500.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 497-500
    • White, K.E.1    Jonsson, K.B.2    Carn, G.3    Hampson, G.4    Spector, T.D.5    Mannstadt, M.6
  • 66
    • 0025870636 scopus 로고
    • Review and update: oncogenic osteomalacia-rickets
    • PID: 1755097
    • Weidner N. Review and update: oncogenic osteomalacia-rickets. Ultrastruct Pathol. 1991;15:317–33.
    • (1991) Ultrastruct Pathol , vol.15 , pp. 317-333
    • Weidner, N.1
  • 67
    • 9144231813 scopus 로고    scopus 로고
    • Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature
    • PID: 14707860
    • Folpe AL, Fanburg-Smith JC, Billings SD, Bisceglia M, Bertoni F, Cho JY, et al. Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature. Am J Surg Pathol. 2004;28:1–30.
    • (2004) Am J Surg Pathol , vol.28 , pp. 1-30
    • Folpe, A.L.1    Fanburg-Smith, J.C.2    Billings, S.D.3    Bisceglia, M.4    Bertoni, F.5    Cho, J.Y.6
  • 68
    • 24644460574 scopus 로고    scopus 로고
    • Tumor-induced osteomalacia
    • de Beur SM J. Tumor-induced osteomalacia. JAMA. 2005;294:1260–7.
    • (2005) JAMA , vol.294 , pp. 1260-1267
    • de Beur SM, J.1
  • 69
    • 79960083752 scopus 로고    scopus 로고
    • Tumor-induced osteomalacia
    • PID: 21490240, A comprehensive review of clinical aspects of tumor-induced osteomalacia with attention to recent developments in diagnostics and tumor localization
    • Chong WH, Molinolo AA, Chen CC, Collins MT. Tumor-induced osteomalacia. Endocr Relat Cancer. 2011;18:R53–77. A comprehensive review of clinical aspects of tumor-induced osteomalacia with attention to recent developments in diagnostics and tumor localization.
    • (2011) Endocr Relat Cancer , vol.18 , pp. 53-77
    • Chong, W.H.1    Molinolo, A.A.2    Chen, C.C.3    Collins, M.T.4
  • 71
    • 0024366256 scopus 로고
    • Osteoglophonic dysplasia
    • PID: 2810341
    • Beighton P. Osteoglophonic dysplasia. J Med Genet. 1989;26:572–6.
    • (1989) J Med Genet , vol.26 , pp. 572-576
    • Beighton, P.1
  • 73
    • 16344378643 scopus 로고    scopus 로고
    • Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome
    • PID: 15742370
    • 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.
    • (2005) Am J Med Genet A , vol.134 , pp. 233-236
    • Hoffman, W.H.1    Jueppner, H.W.2    Deyoung, B.R.3    O’Dorisio, M.S.4    Given, K.S.5
  • 74
    • 77954424487 scopus 로고    scopus 로고
    • Elevated FGF-23 and parathormone in linear nevus sebaceous syndrome with resistant rickets
    • PID: 20217432
    • Sethi SK, Hari P, Bagga A. Elevated FGF-23 and parathormone in linear nevus sebaceous syndrome with resistant rickets. Pediatr Nephrol. 2010;25:1577–8.
    • (2010) Pediatr Nephrol , vol.25 , pp. 1577-1578
    • Sethi, S.K.1    Hari, P.2    Bagga, A.3
  • 75
    • 84902283348 scopus 로고    scopus 로고
    • Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia
    • PID: 24006476
    • Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, et al. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Hum Mol Genet. 2014;23:397–407.
    • (2014) Hum Mol Genet , vol.23 , pp. 397-407
    • Lim, Y.H.1    Ovejero, D.2    Sugarman, J.S.3    Deklotz, C.M.4    Maruri, A.5    Eichenfield, L.F.6
  • 77
    • 85047691059 scopus 로고    scopus 로고
    • FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting
    • PID: 12952917
    • Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest. 2003;112:683–92.
    • (2003) J Clin Invest , vol.112 , pp. 683-692
    • Riminucci, M.1    Collins, M.T.2    Fedarko, N.S.3    Cherman, N.4    Corsi, A.5    White, K.E.6
  • 79
    • 42149130855 scopus 로고    scopus 로고
    • A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism
    • PID: 18308935
    • Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, et al. A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci U S A. 2008;105:3455–60.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 3455-3460
    • Brownstein, C.A.1    Adler, F.2    Nelson-Williams, C.3    Iijima, J.4    Li, P.5    Imura, A.6
  • 80
    • 84878219688 scopus 로고    scopus 로고
    • Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification
    • PID: 23325605
    • Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, et al. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. J Bone Miner Res. 2013;28:1378–85.
    • (2013) J Bone Miner Res , vol.28 , pp. 1378-1385
    • Rafaelsen, S.H.1    Raeder, H.2    Fagerheim, A.K.3    Knappskog, P.4    Carpenter, T.O.5    Johansson, S.6
  • 81
    • 84863698813 scopus 로고    scopus 로고
    • Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice
    • PID: 22615579
    • Wang X, Wang S, Li C, Gao T, Liu Y, Rangiani A, et al. Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. PLoS Genet. 2012;8:e1002708.
    • (2012) PLoS Genet , vol.8 , pp. 1002708
    • Wang, X.1    Wang, S.2    Li, C.3    Gao, T.4    Liu, Y.5    Rangiani, A.6
  • 82
    • 0022002364 scopus 로고
    • Hereditary hypophosphatemic rickets with hypercalciuria
    • PID: 2983203
    • Tieder M, Modai D, Samuel R, Arie R, Halabe A, Bab I, et al. Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med. 1985;312:611–7.
    • (1985) N Engl J Med , vol.312 , pp. 611-617
    • Tieder, M.1    Modai, D.2    Samuel, R.3    Arie, R.4    Halabe, A.5    Bab, I.6
  • 83
    • 31544460435 scopus 로고    scopus 로고
    • Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3
    • PID: 16358215
    • Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, et al. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet. 2006;78:193–201.
    • (2006) Am J Hum Genet , vol.78 , pp. 193-201
    • Lorenz-Depiereux, B.1    Benet-Pages, A.2    Eckstein, G.3    Tenenbaum-Rakover, Y.4    Wagenstaller, J.5    Tiosano, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.