A clinician's guide to X-linked hypophosphatemia

Journal of Bone and Mineral Research

Volumn 26, Issue 7, 2011, Pages 1381-1388

  Carpenter, Thomas O ^a   Imel, Erik A ^b   Holm, Ingrid A ^c   Jan De Beur, Suzanne M ^d   Insogna, Karl L ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

FGF23; Osteomalacia; Phex; Phosphate; Rickets

Indexed keywords

ALFACALCIDOL; CALCITRIOL; DIHYDROTACHYSTEROL; DOXERCALCIFEROL; ERGOCALCIFEROL; GROWTH HORMONE; HECTORAL; PARICALCITOL; PHOSPHATE; PHOSPHORUS; UNCLASSIFIED DRUG;

BONE RADIOGRAPHY; CLINICAL FEATURE; DENTAL CARE; GASTROINTESTINAL SYMPTOM; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; HYPERPARATHYROIDISM; KIDNEY CALCIFICATION; OSTEOMALACIA; PATHOPHYSIOLOGY; PATIENT MONITORING; PRACTICE GUIDELINE; REVIEW; X LINKED HYPOPHOSPHATEMIC RICKETS;

HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; PRACTICE GUIDELINES AS TOPIC;

EID: 79959496042     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.340     Document Type: Review

References (44)

1. Holm IA, Econs MJ, Carpenter TO,. Familial hypophosphatemia and related disorders. In:, Glorieux FH, Juppner H, Pettifor JM, eds. Pediatric Bone: Biology & Diseases. San Diego, CA: Academic Press; 2003: 603-631.
2. Pettifor JM,. What's new in hypophosphataemic rickets? Eur J Pediatr. 2008; 167: 493-499.
3. Auricchio A, Sabbagh Y, Tenenhouse HS, Econs MJ,. Mendelian hypophosphatemias. In:, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, eds. The Online Metabolic and Molecular Basis of Inherited Disease. New York, NY: McGraw-Hill; 2008: 1-171.
4. Carpenter TO, Drezner M,. Primary disorders of phosphate metabolism. Available at:. Accessed August 31, 2010.
5. Tenenhouse HS, Beck L,. Renal Na+-P cotransporter gene expression in X-linked Hyp and Gy mice. Kidney Int. 1996; 49: 1027-1032. (Pubitemid 26124363)
6. Francis F, Henning S, Korn B, et al. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet. 1995; 11: 130-136.
7. Beck L, Soumounou Y, Martel J, 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: 1200-1209. (Pubitemid 27142755)
8. Ruchon AF, Marcinkiewicz M, Siegfried G, et al. Pex mRNA is localized in developing mouse osteoblasts and odontoblasts. J Histochem Cytochem. 1998; 46: 459-468. (Pubitemid 28158465)
9. The ADHR Consortium. Autosomal dominant hypophosphatemic rickets is associated with mutations in FGF-23. Nat Genet. 2000; 26: 345-348.
10. Lorenz-Depiereux B, Bastepe M, Benet-Pages A, et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet. 2006; 38: 1248-1250. (Pubitemid 44646286)
11. Feng JQ, Ward LM, Liu S, et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet. 2006; 38: 1310-1315. (Pubitemid 44646294)
12. Levy-Litan V, Hershkowitz E, Avizov L, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010; 86: 273-278.
13. Rutsch F, Ruf N, Vaingankar S, et al. Mutations in ENPP1 are associated with "idiopathic" infantile arterial calcification. Nat Genet. 2003; 34: 379-381. (Pubitemid 36935330)
14. Shimada T, Hasegawa H, Yamazaki Y, et al. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res. 2004; 19: 429-435. (Pubitemid 38787398)
15. Urakawa I, Yamazaki Y, Shimada T, et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature. 2006; 444: 770-774. (Pubitemid 44949607)
16. Farrow EG, White KE,. Recent advances in renal phosphate handling. Nat Rev Nephrol. 2010; 6: 207-217.
17. Hu MC, Shi M, Zhang J, et al. Klotho: a novel phosphaturic substance acting as an autocrine enzyme in the renal proximal tubule. FASEB J. 2010; 24: 3438-3450.
18. Aono Y, Yamazaki Y, Yasutake J, et al. Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia. J Bone Miner Res. 2009; 24: 1879-1888.
19. 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: 658-664.
20. 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: 3591-3597. (Pubitemid 37034500)
21. Petersen DJ, Boniface AM, Schranck FW, Rupich RC, Whyte MP,. X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. J Bone Miner Res. 1992; 7: 583-590.
22. Glorieux FH, Marie PJ, Pettifor JM, Delvin EE,. Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets. N Engl J Med. 1980; 303: 1023-1031. (Pubitemid 10025213)
23. Harrell RM, Lyles KW, Harrelson JM, Friedman NE, Drezner MK,. Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol. J Clin Invest. 1985; 75: 1858-1868.
24. Verge CF, Lam A, Simpson JM, Cowell CT, Howard NJ, Silink M,. Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med. 1991; 325: 1843-1848.
25. Chesney RW, Mazess RB, Rose P, Hamstra AJ, DeLuca HF, Breed AL,. Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets. Pediatrics. 1983; 71: 559-67. (Pubitemid 13116592)
26. Costa T, Marie PJ, Scriver CR, et al. X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization. J Clin Endocrinol Metab. 1981; 52: 463-472. (Pubitemid 11136557)
27. Rasmussen H, Pechet M, Anast C, Mazur A, Gertner J, Broadus AE,. Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1 alpha-hydroxyvitamin D3. J Pediatr. 1981; 99: 16-25. (Pubitemid 11046412)
28. Makitie O, Kooh SW, Sochett E,. Prolonged high-dose phosphate treatment: a risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets. Clin Endocrinol. 2003; 58: 163-168. (Pubitemid 36194270)
29. Carpenter TO,. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am. 1997; 44: 443-466. (Pubitemid 27188182)
30. Kooh SW, Binet A, Daneman A,. Nephrocalcinosis in X-linked hypophosphataemic rickets: its relationship to treatment, kidney function, and growth. Clin Invest Med. 1994; 17: 123-130. (Pubitemid 24167319)
31. Patel L, Clayton PE, Brain C, et al. Acute biochemical effects of growth hormone treatment compared with conventional treatment in familial hypophosphataemic rickets. Clin Endocrinol. 1996; 44: 687-696. (Pubitemid 26225185)
32. Ariceta G, Langman CB,. Growth in X-linked hypophosphatemic rickets. Eur J Pediatr. 2007; 166: 303-309. (Pubitemid 46295097)
33. Wilson DM, Lee PD, Morris AH, et al. Growth hormone therapy in hypophosphatemic rickets. Am J Dis Child. 1991; 145: 1165-1170.
34. Makitie 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: 212-220. (Pubitemid 351562909)
35. Cameron FJ, Sochett EB, Daneman A, Kooh SW,. A trial of growth hormone therapy in well-controlled hypophosphataemic rickets. Clin Endocrinol. 1999; 50: 577-582. (Pubitemid 29236333)
36. Seikaly MG, Brown R, Baum M,. The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. Pediatrics. 1997; 100: 879-884. (Pubitemid 27463326)
37. 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: 610-613.
38. Saggese G, Baroncelli G, Bertelloni S, Perri G,. Long-term growth hormone treatment in children with renal hypophosphatemic rickets: effects on growth, mineral metabolism, and bone density. J Pediatr. 1995; 127: 395-402.
39. Novais E, Stevens PM,. Hypophosphatemic rickets: the role of hemiepiphsiodesis. J Pediatr Orthop. 2006; 26: 238-244.
40. Tsuru N, Chan JC, Chinchilli VM,. Renal hypophosphatemic rickets. Growth and mineral metabolism after treatment with calcitriol (1,25-dihydroxyvitamin D3) and phosphate supplementation. Am J Dis Child. 1987; 141: 108-110. (Pubitemid 17210284)
41. Chan JC, Lovinger RD, Mamunes P,. Renal hypophosphatemic rickets: growth acceleration after long-term treatment with 1,25-dihydroxyvitamin-D3. Pediatrics. 1980; 66: 445-454. (Pubitemid 10001153)
42. Sochett E, Doria AS, Henriques F, Kooh SW, Daneman A, Makitie O,. Growth and metabolic control during puberty in girls with X-linked hypophosphataemic rickets. Horm Res. 2004; 61: 252-256. (Pubitemid 38490209)
43. Sullivan W, Carpenter TO, Glorieux F, Travers R, Insogna K,. A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy on symptomatic adults with X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 1992; 75: 879-885.
44. 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 Tiss Int. 2009; 85: 235-246.