Pathogenesis and diagnostic criteria for rickets and osteomalacia -proposal by an expert panel supported by ministry of health, Labour and Welfare, Japan, the Japanese society for bone and mineral research and the Japan endocrine society

Endocrine Journal

Volumn 62, Issue 8, 2015, Pages 665-671

  Fukumoto, Seiji ^a   Ozono, Keiichi ^b   Michigami, Toshimi ^c   Minagawa, Masanori ^d   Okazaki, Ryo ^e   Sugimoto, Toshitsugu ^f   Takeuchi, Yasuhiro ^g   Matsumoto, Toshio ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d CHIBA CHILDREN'S HOSPITAL   (Japan)

^e TEIKYO UNIVERSITY CHIBA MEDICAL CENTER   (Japan)

^f SHIMANE UNIVERSITY   (Japan)

^g TORANOMON HOSPITAL   (Japan)

Author keywords

FGF23; Hyopcalcemia; Hypophosphatemia; Vitamin D

Indexed keywords

25 HYDROXYVITAMIN D; ALKALINE PHOSPHATASE; CALCITRIOL; CALCIUM; FIBROBLAST GROWTH FACTOR 23; PHOSPHATE;

ARTICLE; BONE DENSITY; BONE DISEASE; BONE LEVEL; BONE MALFORMATION; BONE PAIN; BONE RACHITIC CHANGE; CALCIUM BLOOD LEVEL; CLINICAL FEATURE; DIAGNOSIS; DIAGNOSTIC CRITERIA; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; FLOWCHART; GASTRECTOMY; HUMAN; HYPOCALCEMIA; HYPOPHOSPHATEMIA; JAPAN; MUSCLE WEAKNESS; OSTEOMALACIA; PATHOGENESIS; PHOSPHATE BLOOD LEVEL; RENAL SYSTEM PARAMETERS; RICKETS; STANDARD; SYMPTOM; TUBULAR MAXIMUM TRANSPORT OF PHOSPHATE PER GLOMERULAR FILTRATION RATE; VITAMIN D DEFICIENCY; DISEASE MANAGEMENT; PRACTICE GUIDELINE; QUALITY OF LIFE;

DIAGNOSIS, DIFFERENTIAL; DISEASE MANAGEMENT; HUMANS; OSTEOMALACIA; QUALITY OF LIFE; RICKETS;

EID: 84940570622     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.EJ15-0289     Document Type: Article

References (20)

1. Reginato AJ, Coquia JA (2003) Musculoskeletal manifestations of osteomalacia and rickets. Best Pract Res Clin Rheumatol 17: 1063-1080.
2. Whyte MP, Thakker RV (2009) Rickets and osteomalacia. Medicine 37: 483-488.
3. Prentice A (2013) Nutritional rickets around the world. J Steroid Biochem Mol Biol 136: 201-206.
4. Fukumoto S, Martin TJ (2009) Bone as an endocrine organ. Trends EndocrinolMetab 20: 230-236.
5. Endo I, Fukumoto S, Ozono K, Namba N, Tanaka H, et al. (2008) Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. Bone 42: 1235-1239.
6. Kitanaka S, Takeyama K, Murayama A, Sato T, Okumura K, et al. (1998) Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med 338: 653-661.
7. Hughes MR, Malloy PJ, Kieback DG, Kesterson RA, Pike JW, et al. (1988) Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 242: 1702-1705.
8. Tovey FI, Hall ML, Ell PJ, Hobsley M (1992) A review of postgastrectomy bone disease. J Gastroenterol Hepatol 7: 639-645.
9. Collier J (2007) Bone disorders in chronic liver disease. Hepatology 46: 1271-1278.
10. Blaine J, Chonchol M, Levi M (2015) Renal control of calcium, phosphate, and magnesium homeostasis. Clin J Am Soc Nephrol 10: 1257-1272.
11. Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, et al. (2006) 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 78: 179-192.
12. Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, et al. (2006) Hereditary hypophosphatemic rickets with hypercal-ciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 78: 193-201.
13. Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, et al. (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379: 445-449.
14. Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, et al. (2004) FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 19: 429-435.
15. Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, et al. (2003) Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl JMed 348: 1656-1663.
16. Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, et al. (2002) Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 87: 4957-4960.
17. Fukumoto S (2014) Anti-fibroblast growth factor 23 antibody therapy. Curr Opin Nephrol Hypertens 23: 346-351.
18. Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, et al. (1988) A missense mutation in the human liver/ bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. ProcNatl AcadSci US A 85: 7666-7669.
19. Bendik I, Friedel A, Roos FF, Weber P, Eggersdorfer M (2014) Vitamin D: a critical and essential micronutrient for human health. Front Physiol 5: 248.
20. Kubota T, Kitaoka T, Miura K, Fujiwara M, Ohata Y, et al. (2014) Serum fibroblast growth factor 23 is a useful marker to distinguish vitamin D-deficient rickets from hypophosphatemic rickets. Horm Res Paediatr 81: 251-257.