Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets

Journal of the American Academy of Orthopaedic Surgeons

Volumn 23, Issue 7, 2015, Pages 433-442

  Sharkey, Melinda S ^a   Grunseich, Karl ^a   Carpenter, Thomas O ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; BONE DENSITY CONSERVATION AGENT; ERGOCALCIFEROL; PHEX PROTEIN, HUMAN; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE;

ADULT; BLOOD; CHILD; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENETICS; HUMAN; INTERNAL FIXATOR; KNEE ARTHROPLASTY; MUTATION; OSTEOSYNTHESIS; OSTEOTOMY; PROCEDURES; TREATMENT OUTCOME;

ADULT; ARTHROPLASTY, REPLACEMENT, KNEE; BIOLOGICAL MARKERS; BONE DENSITY CONSERVATION AGENTS; CHILD; ERGOCALCIFEROLS; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FRACTURE FIXATION, INTERNAL; HUMANS; INTERNAL FIXATORS; MUTATION; OSTEOTOMY; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; TREATMENT OUTCOME;

EID: 84932146606     PISSN: 1067151X     EISSN: None     Source Type: Journal    
DOI: 10.5435/JAAOS-D-14-00082     Document Type: Review

References (47)

1. 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(6):583-597.
2. Marie PJ, Glorieux FH: Bone histomorphometry in asymptomatic adults with hereditary hypophosphatemic vitamin D-resistant osteomalacia. Metab Bone Dis Relat Res 1982;4(4):249-253.
3. Marie PJ, Glorieux FH: Stimulation of cortical bone mineralization and remodeling by phosphate and 1,25-dihydroxyvitamin D in vitamin D-resistant rickets. Metab Bone Dis Relat Res 1981;3(3):159-164.
4. Cheung M, Roschger P, Klaushofer K, et al: Cortical and trabecular bone density in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2013;98(5):E954-E961.
5. Carpenter TO: The expanding family of hypophosphatemic syndromes. J Bone Miner Metab 2012;30(1):1-9.
6. Carpenter TO: New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am 1997;44(2):443-466.
7. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL: A clinician'sguide to X-linked hypophosphatemia. J Bone Miner Res 2011;26(7):1381-1388.
8. Aono Y, Yamazaki Y, Yasutake J, et al: Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia. J Bone Miner Res 2009;24(11):1879-1888.
9. 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(1):108-110.
10. Mäkitie 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(8):3591-3597.
11. 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(3):879-885.
12. Pierce DS, Wallace WM, Herndon CH: Long-term treatment of vitamin-D resistant rickets. J Bone Joint Surg Am 1964;46:978-997.
13. Paley D, Tetsworth K: Mechanical axis deviation of the lower limbs: Preoperative planning of multiapical frontal plane angular and bowing deformities of the femur and tibia. Clin Orthop Relat Res 1992;280:65-71.
14. Giles RC: Rickets: The surgical treatment of the chronic deformities: With emphasis on bow-legs and knock-knees. J Natl Med Assoc 1922;14(1):9-11.
15. Blanchard W: Osteoclasis and osteotomy: Annual Session of the American Medical Association, Section on Orthopedic Surgery. JAMA 1916;LXVII(7):504-508.
16. Taylor HL: The Surgery of Rickets: Fiftythird Annual Meeting of the American Medical Association JAMA 1902;XXXIX(15):901-903.
17. Albright FB, Butler AM, Bloomberg E: Rickets resistant to vitamin D therapy. Am J Dis Child 1937;54(3):529-547.
18. Stickler GB, Hayles AB, Rosevear JW: Familial hypophosphatemic vitamin D resistant rickets: Effect of increased oral calcium and phosphorus intake without high doses of vitamin D. Am J Dis Child 1965;110(6):664-667.
19. Tapia J, Stearns G, Ponseti IV: Vitamin-D resistant rickets: A long-term clinical study of 11 patients. J Bone Joint Surg Am 1964;46:935-958.
20. Pedersen HE, McCarroll HR: Vitaminresistant rickets. J Bone Joint Surg Am 1951;33(1):203-220.
21. Sofield HA, Millar EA: Fragmentation, realignment, and intramedullary rod fixation of deformities of the long bones in children: A 10-year appraisal. J Bone Joint Surg Am 1959;41(8):1371-1391.
22. Behrens FF, Sabharwal S: Deformity correction and reconstructive procedures using percutaneous techniques. Clin Orthop Relat Res 2000;375:133-139.
23. Yasui N, Nakase T, Kawabata H, Shibata T, Helland P, Ochi T: A technique of percutaneous multidrilling osteotomy for limb lengthening and deformity correction. J Orthop Sci 2000;5(2):104-107.
24. Brouwer GM, van Tol AW, Bergink AP, et al: Association between valgus and varus alignment and the development and progression of radiographic osteoarthritis of the knee. Arthritis Rheum 2007;56(4):1204-1211.
25. Cerejo R, Dunlop DD, Cahue S, Channin D, Song J, Sharma L: The influence of alignment on risk of knee osteoarthritis progression according to baseline stage of disease. Arthritis Rheum 2002;46(10):2632-2636.
26. Felson DT, Niu J, Gross KD, et al: Valgus malalignment is a risk factor for lateral knee osteoarthritis incidence and progression: Findings from the Multicenter Osteoarthritis Study and the Osteoarthritis Initiative. Arthritis Rheum 2013;65(2):355-362.
27. Khan FA, Koff MF, Noiseux NO, et al: Effect of local alignment on compartmental patterns of knee osteoarthritis. J Bone Joint Surg Am 2008;90(9):1961-1969.
28. Sharma L: The role of varus and valgus alignment in knee osteoarthritis. Arthritis Rheum 2007;56(4):1044-1047.
29. Sharma L, Chmiel JS, Almagor O, et al: The role of varus and valgus alignment in the initial development of knee cartilage damage by MRI: The MOST study. Ann Rheum Dis 2013;72(2):235-240.
30. Sharma L, Song J, Felson DT, Cahue S, Shamiyeh E, Dunlop DD: The role of knee alignment in disease progression and functional decline in knee osteoarthritis. JAMA 2001;286(2):188-195.
31. Rubinovitch M, Said SE, Glorieux FH, Cruess RL, Rogala E: Principles and results of corrective lower limb osteotomies for patients with vitamin D-resistant hypophosphatemic rickets. Clin Orthop Relat Res 1988;237:264-270.
32. Evans GA, Arulanantham K, Gage JR: Primary hypophosphatemic rickets: Effect of oral phosphate and vitamin D on growth and surgical treatment. J Bone Joint Surg Am 1980;62(7):1130-1138.
33. Stanitski DF: Treatment of deformity secondary to metabolic bone disease with the Ilizarov technique. Clin Orthop Relat Res 1994;301:38-41.
34. Kanel JS, Price CT: Unilateral external fixation for corrective osteotomies in patients with hypophosphatemic rickets. J Pediatr Orthop 1995;15(2):232-235.
35. Choi IH, Kim JK, Chung CY, et al: Deformity correction of knee and leg lengthening by Ilizarov method in hypophosphatemic rickets: Outcomes and significance of serum phosphate level. J Pediatr Orthop 2002;22(5):626-631.
36. Novais E, Stevens PM: Hypophosphatemic rickets: The role of hemiepiphysiodesis. J Pediatr Orthop 2006;26(2):238-244.
37. Stevens PM, Klatt JB: Guided growth for pathological physes: Radiographic improvement during realignment. J Pediatr Orthop 2008;28(6):632-639.
38. Fucentese SF, Neuhaus TJ, Ramseier LE, Ulrich Exner G: Metabolic and orthopedic management of X-linked vitamin D-resistant hypophosphatemic rickets. J Child Orthop 2008;2(4):285-291.
39. Petje G, Meizer R, Radler C, Aigner N, Grill F: Deformity correction in children with hereditary hypophosphatemic rickets. Clin Orthop Relat Res 2008;466(12):3078-3085.
40. Song HR, Soma Raju VV, Kumar S, et al: Deformity correction by external fixation and/or intramedullary nailing in hypophosphatemic rickets. Acta Orthop 2006;77(2):307-314.
41. Eralp L, Kocaoglu M, Toker B, Balci HI, Awad A: Comparison of fixator-assisted nailing versus circular external fixator for bone realignment of lower extremity angular deformities in rickets disease. Arch Orthop Trauma Surg 2011;131(5):581-589.
42. Eyres KS, Brown J, Douglas DL: Osteotomy and intramedullary nailing for the correction of progressive deformity in vitamin D-resistant hypophosphataemic rickets. J R Coll Surg Edinb 1993;38(1):50-54.
43. Kocaoglu M, Bilen FE, Sen C, Eralp L, Balci HI: Combined technique for the correction of lower-limb deformities resulting from metabolic bone disease. J Bone Joint Surg Br 2011;93(1):52-56.
44. Kocaoglu M, Eralp L, Bilen FE, Balci HI: Fixator-assisted acute femoral deformity correction and consecutive lengthening over an intramedullary nail. J Bone Joint Surg Am 2009;91(1):152-159.
45. Paley D, Herzenberg JE, Paremain G, Bhave A: Femoral lengthening over an intramedullary nail: A matched-case comparison with Ilizarov femoral lengthening. J Bone Joint Surg Am 1997;79(10):1464-1480.
46. Paley D: Principles of Deformity Correction. Springer, 2005.
47. Larson AN, Trousdale RT, Pagnano MW, Hanssen AD, Lewallen DG, Sanchez- Sotelo J: Hip and knee arthroplasty in hypophosphatemic rickets. J Arthroplasty 2010;25(7):1099-1103.