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Volumn 22, Issue 1, 2012, Pages 9-14

Treatment of hypophosphatemic rickets with phosphate and active vitamin D in Japan: A questionnaire-based survey

Author keywords

Active vitamin D; Hypophosphatemia; Phosphate; Phosphaturia; Rickets

Indexed keywords

ALKALINE PHOSPHATASE; CALCIUM; CREATININE; GROWTH HORMONE; PARATHYROID HORMONE; PHOSPHATE; PHOSPHORUS; VITAMIN D;

EID: 84873539710     PISSN: 09185739     EISSN: 13477358     Source Type: Journal    
DOI: 10.1297/cpe.22.9     Document Type: Article
Times cited : (4)

References (28)
  • 1
    • 78049369446 scopus 로고    scopus 로고
    • Hereditary disorders of renal phosphate wasting
    • [Medline] [CrossRef]
    • Alizadeh Naderi AS, Reilly RF. Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol 2010;6:657-65. [Medline] [CrossRef]
    • (2010) Nat Rev Nephrol , vol.6 , pp. 657-665
    • Naderi, A.S.A.1    Reilly, R.F.2
  • 2
    • 84858819813 scopus 로고    scopus 로고
    • The expanding family of hypophosphatemic syndromes
    • [Medline] [CrossRef]
    • Carpenter TO. The expanding family of hypophosphatemic syndromes. J Bone Miner Metab 2012;30:1-9. [Medline] [CrossRef]
    • (2012) J Bone Miner Metab , vol.30 , pp. 1-9
    • Carpenter, T.O.1
  • 3
    • 0033763097 scopus 로고    scopus 로고
    • Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
    • The ADHR Consortium, [Medline] [CrossRef]
    • The ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 2000;26:345-8. [Medline] [CrossRef]
    • (2000) Nat Genet , vol.26 , pp. 345-348
  • 4
    • 18744371012 scopus 로고    scopus 로고
    • Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/ osteomalacia
    • [Medline] [CrossRef]
    • 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. [Medline] [CrossRef]
    • (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
  • 5
    • 0035186837 scopus 로고    scopus 로고
    • Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23
    • [Medline] [CrossRef]
    • White KE, Carn G, Lorenz-Depiereux B, Benet-Pages A, Strom TM, Econs MJ. Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int 2001;60:2079-86. [Medline] [CrossRef]
    • (2001) Kidney Int , vol.60 , pp. 2079-2086
    • White, K.E.1    Carn, G.2    Lorenz-Depiereux, B.3    Benet-Pages, A.4    Strom, T.M.5    Econs, M.J.6
  • 6
    • 77951259224 scopus 로고    scopus 로고
    • Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): Implications for disorders of phosphate metabolism
    • [Medline] [CrossRef]
    • Gattineni J, Baum M. Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism. Pediatr Nephrol 2010;25:591-601. [Medline] [CrossRef]
    • (2010) Pediatr Nephrol , vol.25 , pp. 591-601
    • Gattineni, J.1    Baum, M.2
  • 7
    • 82455175198 scopus 로고    scopus 로고
    • Vitamin D metabolism in the kidney: Regulation by phosphorus and fbroblast growth factor 23
    • [Medline] [CrossRef]
    • Perwad F, Portale AA. Vitamin D metabolism in the kidney: regulation by phosphorus and fbroblast growth factor 23. Mol Cell Endocrinol 2011;347:17-24. [Medline] [CrossRef]
    • (2011) Mol Cell Endocrinol , vol.347 , pp. 17-24
    • Perwad, F.1    Portale, A.A.2
  • 8
    • 8444223088 scopus 로고    scopus 로고
    • Bone as a source of FGF23: Regulation by phosphate?
    • [Medline] [CrossRef]
    • Mirams M, Robinson BG, Mason RS, Nelson AE. Bone as a source of FGF23: regulation by phosphate? Bone 2004;35:1192-9. [Medline] [CrossRef]
    • (2004) Bone , vol.35 , pp. 1192-1199
    • Mirams, M.1    Robinson, B.G.2    Mason, R.S.3    Nelson, A.E.4
  • 9
    • 33750454816 scopus 로고    scopus 로고
    • Loss of DMP1 causes rickets and osteomalacia and identifes a role for osteocytes in mineral metabolism
    • [Medline] [CrossRef]
    • Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, et al. Loss of DMP1 causes rickets and osteomalacia and identifes a role for osteocytes in mineral metabolism. Nat Genet 2006;38:1310-5. [Medline] [CrossRef]
    • (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
  • 10
    • 76049121613 scopus 로고    scopus 로고
    • Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene
    • [Medline] [CrossRef]
    • 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. [Medline] [CrossRef]
    • (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
  • 11
    • 76049105171 scopus 로고    scopus 로고
    • Loss-of-function ENPP1 mutations cause both generalized arterial calcifcation of infancy and autosomal-recessive hypophosphatemic rickets
    • [Medline] [CrossRef]
    • Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcifcation of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 2010;86:267-72. [Medline] [CrossRef]
    • (2010) Am J Hum Genet , vol.86 , pp. 267-272
    • Lorenz-Depiereux, B.1    Schnabel, D.2    Tiosano, D.3    Häusler, G.4    Strom, T.M.5
  • 12
    • 0042166167 scopus 로고    scopus 로고
    • Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
    • [Medline] [CrossRef]
    • Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Höhne W, et al. Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet 2003;34:379-81. [Medline] [CrossRef]
    • (2003) Nat Genet , vol.34 , pp. 379-381
    • Rutsch, F.1    Ruf, N.2    Vaingankar, S.3    Toliat, M.R.4    Suk, A.5    Höhne, W.6
  • 13
    • 80051687775 scopus 로고    scopus 로고
    • Bone proteins PHEX and DMP1 regulate fbroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling
    • [Medline] [CrossRef]
    • Martin A, Liu S, David V, Li H, Karydis A, Feng JQ, et al. Bone proteins PHEX and DMP1 regulate fbroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling. FASEB J 2011;25:2551-62. [Medline] [CrossRef]
    • (2011) FASEB J , vol.25 , pp. 2551-2562
    • Martin, A.1    Liu, S.2    David, V.3    Li, H.4    Karydis, A.5    Feng, J.Q.6
  • 14
    • 77956897111 scopus 로고    scopus 로고
    • A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets
    • [Medline] [CrossRef]
    • Koshida R, Yamaguchi H, Yamasaki K, Tsuchimochi W, Yonekawa T, Nakazato M. A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets. J Bone Miner Metab 2010;28:585-90. [Medline] [CrossRef]
    • (2010) J Bone Miner Metab , vol.28 , pp. 585-590
    • Koshida, R.1    Yamaguchi, H.2    Yamasaki, K.3    Tsuchimochi, W.4    Yonekawa, T.5    Nakazato, M.6
  • 15
    • 70349758944 scopus 로고    scopus 로고
    • Familial hypophosphatemic rickets caused by a large deletion in PHEX gene
    • [Medline] [CrossRef]
    • Saito T, Nishii Y, Yasuda T, Ito N, Suzuki H, Igarashi T, et al. Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. Eur J Endocrinol 2009;161:647-51. [Medline] [CrossRef]
    • (2009) Eur J Endocrinol , vol.161 , pp. 647-651
    • Saito, T.1    Nishii, Y.2    Yasuda, T.3    Ito, N.4    Suzuki, H.5    Igarashi, T.6
  • 16
    • 0037205468 scopus 로고    scopus 로고
    • Growth-related renal type II Na/Pi cotransporter
    • [Medline] [CrossRef]
    • Segawa H, Kaneko I, Takahashi A, Kuwahata M, Ito M, Ohkido I, et al. Growth-related renal type II Na/Pi cotransporter. J Biol Chem 2002;277:19665-72. [Medline] [CrossRef]
    • (2002) J Biol Chem , vol.277 , pp. 19665-19672
    • Segawa, H.1    Kaneko, I.2    Takahashi, A.3    Kuwahata, M.4    Ito, M.5    Ohkido, I.6
  • 17
    • 31544460435 scopus 로고    scopus 로고
    • Hereditary Hypophosphatemic Rickets with Hypercalciuria is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
    • [Medline] [CrossRef]
    • 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. [Medline] [CrossRef]
    • (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
  • 18
    • 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
    • [Medline] [CrossRef]
    • 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. [Medline] [CrossRef]
    • (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
  • 19
    • 0029160578 scopus 로고
    • A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
    • [Medline] [CrossRef]
    • Francis F, Hennig S, Korn B, Reinhardt R, Jong PD, Poustka A, et al. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 1995;11:130-6. [Medline] [CrossRef]
    • (1995) Nat Genet , vol.11 , pp. 130-136
    • Francis, F.1    Hennig, S.2    Korn, B.3    Reinhardt, R.4    Jong, P.D.5    Poustka, A.6
  • 21
    • 14344279878 scopus 로고    scopus 로고
    • Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia
    • [Medline] [CrossRef]
    • Shimada T, Mizutani S, Muto T, Yoneya T, Hino R, Takeda S, et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci USA 2001;98:6500-5. [Medline] [CrossRef]
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 6500-6505
    • Shimada, T.1    Mizutani, S.2    Muto, T.3    Yoneya, T.4    Hino, R.5    Takeda, S.6
  • 22
    • 20244368616 scopus 로고    scopus 로고
    • Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia
    • [Medline] [CrossRef]
    • 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. [Medline] [CrossRef]
    • (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
  • 24
    • 79960162494 scopus 로고    scopus 로고
    • Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens
    • [Medline] [CrossRef]
    • Kienitz T, Ventz M, Kaminsky E, Quinkler M. Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens. Exp Clin Endocrinol Diabetes 2011;119:431-5. [Medline] [CrossRef]
    • (2011) Exp Clin Endocrinol Diabetes , vol.119 , pp. 431-435
    • Kienitz, T.1    Ventz, M.2    Kaminsky, E.3    Quinkler, M.4
  • 25
    • 77951626687 scopus 로고    scopus 로고
    • Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fbroblast growth factor 23 concentrations
    • [Medline] [CrossRef]
    • Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fbroblast growth factor 23 concentrations. J Clin Endocrinol Metab 2010;95:1846-50. [Medline] [CrossRef]
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 1846-1850
    • Imel, E.A.1    Dimeglio, L.A.2    Hui, S.L.3    Carpenter, T.O.4    Econs, M.J.5
  • 26
    • 78049511826 scopus 로고    scopus 로고
    • Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: Circadian variance, effects of treatment, and relationship to parathyroid status
    • [Medline] [CrossRef]
    • Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, et al. Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status. J Clin Endocrinol Metab 2010;95:E352-7. [Medline] [CrossRef]
    • (2010) J Clin Endocrinol Metab , vol.95
    • Carpenter, T.O.1    Insogna, K.L.2    Zhang, J.H.3    Ellis, B.4    Nieman, S.5    Simpson, C.6
  • 27
    • 84862301501 scopus 로고    scopus 로고
    • Growth in PHEX-associated X-linked hypophosphatemic rickets: The importance of early treatment
    • [Medline] [CrossRef]
    • Quinlan C, Guegan K, Offah A, Neill RO, 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. [Medline] [CrossRef]
    • (2012) Pediatr Nephrol , vol.27 , pp. 581-588
    • Quinlan, C.1    Guegan, K.2    Offah, A.3    Neill, R.O.4    Hiorns, M.P.5    Ellard, S.6
  • 28
    • 84859800665 scopus 로고    scopus 로고
    • Disorders of Calcium, Phosphate, and Bone Metabolism
    • In: Sarafoglou K, Hoffmann GF, Roth KS, editors, New York: McGraw Hill
    • Roth KS, Ward RJ, Chan JC, Sarafoglou K. Disorders of Calcium, Phosphate, and Bone Metabolism. In: Sarafoglou K, Hoffmann GF, Roth KS, editors. Pediatric Endocrinology and Inborn Errors of Metabolism. New York: McGraw Hill;2009.p.619-64.
    • (2009) Pediatric Endocrinology and Inborn Errors of Metabolism , pp. 619-664
    • Roth, K.S.1    Ward, R.J.2    Chan, J.C.3    Sarafoglou, K.4


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