High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH

Endocrine Journal

Volumn 58, Issue 8, 2011, Pages 647-655

  Igaki, Junko Miyamoto ^a   Yamada, Makoto ^a   Yamazaki, Yuji ^b   Koto, Shinobu ^a   Izawa, Masako ^a   Ariyasu, Daisuke ^a   Suzuki, Eri ^a   Hasegawa, Hisashi ^b   Hasegawa, Yukihiro ^a  

^a Tokyo Metropolitan Children's Hospital   (Japan)

^b KYOWA HAKKO KOGYO CO LTD   (Japan)

Author keywords

FGF23; PHEX mutation; Phosphate loading; Reference range; X linked hypophosphatemic rickets (XLH)

Indexed keywords

ALKALINE PHOSPHATASE; PHOSPHATE;

ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; BONE MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL INDICATOR; CONTROLLED STUDY; DISEASE SEVERITY; DOSE RESPONSE; DRUG EFFECT; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GLOMERULUS FILTRATION RATE; HUMAN; HYPOPHOSPHATEMIA; INFANT; INTACT FIBROBLAST GROWTH FACTOR 23 GENE; KIDNEY TUBULE ABSORPTION; LOADING DRUG DOSE; MALE; ONSET AGE; PHOSPHATE BLOOD LEVEL; PHOSPHATE INTAKE; PRESCHOOL CHILD; REFERENCE VALUE; SEX DIFFERENCE; SHORT COURSE THERAPY; X CHROMOSOME; X LINKED HYPOPHOSPHATEMIC RICKETS;

ADOLESCENT; ADULT; BIOLOGICAL MARKERS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; FIBROBLAST GROWTH FACTORS; HUMANS; HYPOPHOSPHATEMIA; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INFANT; MALE; OSMOLAR CONCENTRATION; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PROGNOSIS; YOUNG ADULT;

EID: 80052561989     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K10E-257     Document Type: Article

References (26)

1. ADHR Consortium (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 26(3):345-348.
2. Feng, J. Q.; Ward, L. M.; Liu, S.; Lu, Y.; Xie, Y.; Yuan, B.; Yu, X.; Rauch, F.; Davis, S. I.; Zhang, S.; Rios, H.; Drezner, M. K.; Quarles, L. D.; Bonewald, L. F.; White, K. E (2006) Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nature Genet 38: 1310-1315.
3. Lorenz-Depiereux, B.; Bastepe, M.; Benet-Pages, A.; Amyere, M.; Wagenstaller, J.; Muller-Barth, U.; Badenhoop, K.; Kaiser, S. M.; Rittmaster, R. S.; Shlossberg, A. H.; Olivares, J. L.; Loris, C.; Ramos, F. J.; Glorieux, F.; Vikkula, M.; Juppner, H.; Strom, T. M. (2006) DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nature Genet 38: 1248-1250.
4. Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 86(2): 267-272.
5. Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R (2010) Autosomalrecessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet 86(2): 273-278.
6. PHEX Locus database: www.phexdb.mcgill.ca
7. Sitara D, Razzaque MS, Hesse M, Yoganathan S, Taguchi T, Erben RG, Jüppner H, Lanske B (2004) Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. Matrix Biol 23(7): 421-432.
8. Rowe PS, de Zoysa PA, Dong R, Wang HR, White KE, Econs MJ, Oudet CL (2000) MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 67(1): 54-68.
9. Berndt T, Craig TA, Bowe AE, Vassiliadis J, Reczek D, Finnegan R, Jan De Beur SM, Schiavi SC, Kumar R (2003) Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. J Clin Invest 112(5): 785-794.
10. White KE, Larsson TE, Econs MJ (2006) The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23. Endocr Rev 27(3): 221-241.
11. Shaikh A, Berndt T, Kumar R (2008) Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. Pediatr Nephrol 23(8): 1203-2310.
12. Larsson T, Marsell R, Schipani E, Ohlsson C, Ljunggren O, Tenenhouse HS, Jüppner H, Jonsson KB (2004) Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis. Endocrinology 145(7): 3087-3094.
13. Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, Fujita T, Nakahara K, Fukumoto S, Yamashita T (2004) FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 19(3): 429-435.
14. Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, Takeuchi Y, Fujita T, Nakahara K, Yamashita T, Fukumoto S (2002) Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 87(11): 4957-4960.
15. Endo I, Fukumoto S, Ozono K, Namba N, Tanaka H, Inoue D, Minagawa M, Sugimoto T, Yamauchi M, Michigami T, Matsumoto T (2008) Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. Bone 42(6): 1235-1239.
16. 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, Juppner H (2003) Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 348: 1656-1663.
17. Razzaque MS (2009) The FGF23-Klotho axis: endocrine regulation of phosphate homeostasis. Nat Rev Endocrinol 5(11): 611-619.
18. Ferrari SL, Bonjour JP, Rizzoli R (2005) Fibroblast growth factor-23 relationship to dietary phosphate and renal phosphate handling in healthy young men. J Clin Endocrinol Metab 90(3): 1519-1524.
19. Antoniucci DM, Yamashita T, Portale AA (2006) Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men. J Clin Endocrinol Metab 91(8): 3144-3149.
20. Burnett SM, Gunawardene SC, Bringhurst FR, Jüppner H, Lee H, Finkelstein JS (2006) Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women. J Bone Miner Res 21(8): 1187-1196.
21. Perward F, Azam N, Zhang MYH, Yamashita T, Tenenhouse HS, Portale AA (2005). Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice. Endocrinology 146: 5358-5364.
22. Yamazaki Y, Imura A, Urakawa I, Shimada T, Murakami J, Aono Y, Hasegawa H, Yamashita T, Nakatani K, Saito Y, Okamoto N, Kurumatani N, Namba N, Kitaoka T, Ozono K, Sakai T, Hataya H, Ichikawa S, Imel EA, Econs MJ, Nabeshima Y (2010) Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects. Biochem Biophys Res Commun 398(3): 513-518.
23. Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ (2010) Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab 95(4): 1846-1850.
24. Weber TJ, Liu S, Indridason OS, Quarles LD (2003) Serum FGF23 levels in normal and disordered phosphorus homeostasis. J Bone Miner Res 18(7): 1227-1234.
25. Ito N, Fukumoto S, Takeuchi Y, Yasuda T, Hasegawa Y, Takemoto F, Tajima T, Dobashi K, Yamazaki Y, Yamashita T, Fujita T (2005). Comparison of two assays for fibroblast growth factor (FGF)-23. J Bone Miner Metab 23(6): 435-440.
26. Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, Takeuchi Y, Fujita T, Nakahara K, Yamashita T, Fukumoto S (2002) Increased circulatory level of biologically active full-lenghth FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 87: 4957-4960.