Abstract
Purpose
Therapy of vitamin D-resistant hypophosphatemic rickets (VDXLR) consists of oral phosphate and vitamin D supplements. Bone deformities, pain, and small stature can occur even in children with good compliance, requiring surgical correction and bone lengthening. However, only few surgical reports are available.
Methods
Twelve patients (three males) with VDXLR were followed at our institution. Median age at diagnosis was 3 9/12 years (range, birth to 11 10/12) with a follow-up period of 7 8/12 years (1 9/12–30) and age at last follow-up of 13 6/12 years (2–30). Eight patients underwent surgical correction, three of them in combination with bone lengthening. The corrections were performed at the end of growth in three patients. Clinical endpoints were height, leg axis, and pain.
Results
Single bilateral surgical correction was performed in six patients; one patient each had three and five corrections. Bone lengthening was performed in three patients. At last follow-up, the height of seven operated patients was within normal range. In addition, leg axis was normalized in six patients with mild genua vara in two. Only one patient complained of intermittent pain. Bone healing was excellent; surgical complications were rare. There was no radiological evidence of degenerative arthropathy.
Conclusions
Medical treatment remains the main pillar of therapy in children with VDXLR. In case of bone deformity, surgery can safely be performed, independent of age or bone maturation. All patients were satisfied with the results of axial corrective surgery and bone lengthening, and in the majority only one corrective intervention was needed.
Similar content being viewed by others
References
Albright F, Butler AM, Bloomberg E (1937) Rickets resistant to vitamin D therapy. Am J Dis Child 54:529–547
Rohmiller MT, Tylkowski C, Kriss VM, Mier RJ (1999) The effect of osteotomy on bowing and height in children with X-linked hypophosphatemia. J Pediatr Orthop 19(1):114–118
Rubinovitch M, Said SE, Glorieux FH, Cruess RL, Rogala E (1988) Principles and results of corrective lower limb osteotomies for patients with vitamin D-resistant hypophosphatemic rickets. Clin Orthop Relat Res 237:264–270
Petersen DJ, Boniface AM, Schranck FW, Rupich RC, Whyte MP (1992) X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. J Bone Miner Res 7(6):583–597
Eyres KS, Brown J, Douglas DL (1993) Osteotomy and intramedullary nailing for the correction of progressive deformity in vitamin D-resistant hypophosphataemic rickets. J R Coll Surg Edinb 38(1):50–54
Ferris B, Walker C, Jackson A, Kirwan E (1991) The orthopaedic management of hypophosphataemic rickets. J Pediatr Orthop 11(3):367–373
Evans GA, Arulanantham K, Gage JR (1980) Primary hypophosphatemic rickets. Effect of oral phosphate and vitamin D on growth and surgical treatment. J Bone Joint Surg Am 62(7):1130–1138
Enderle A (1988) Biologico-mechanical behavior of bone in osteomalacia and in phosphate diabetes in adulthood. Orthopade 17(5):432–439
Schwagerl W (1983) Orthopedic problems of vitamin D-resistant rickets (phosphate diabetes). Fortschr Med 101(27–28):1287–1292
Greene WB, Kahler SG (1985) Surgical aspects of limb deformity in hypophosphatemic rickets. South Med J 78(10):1185–1211
Song HR, Soma Raju VV, Kumar S, Lee SH, Suh SW, Kim JR et al (2006) Deformity correction by external fixation and/or intramedullary nailing in hypophosphatemic rickets. Acta Orthop 77:307–314. doi:10.1080/17453670610046073
Dudkiewicz I, Schindler A, Ganel A (2003) Elongation of long bones for short stature in patients with hypophosphatemic rickets. Isr Med Assoc J 5(1):66–67
Canale ST, Christian CA (1990) Techniques for epiphysiodesis about the knee. Clin Orthop Relat Res 255:81–85
Canale ST, Russell TA, Holcomb RL (1986) Percutaneous epiphysiodesis: experimental study and preliminary clinical results. J Pediatr Orthop 6(2):150–156
Novais E, Stevens PM (2006) Hypophosphatemic rickets: the role of hemiepiphysiodesis. J Pediatr Orthop 26:238–244
Tjernstrom B, Olerud S, Rehnberg L (1994) Limb lengthening by callus distraction. Complications in 53 cases operated 1980–1991. Acta Orthop Scand 65(4):447–455
Ganel A, Horoszowski H, Kamhin M, Farine I (1979) Leg lengthening in achondroplastic children. Clin Orthop Relat Res 144:194–197
Monticelli G, Spinelli R (1983) Leg lengthening by closed metaphyseal corticotomy. Ital J Orthop Traumatol 9(2):139–150
De Bastiani G, Aldegheri R, Renzi-Brivio L, Trivella G (1987) Limb lengthening by callus distraction (callotasis). J Pediatr Orthop 7(2):129–134
Paley D (1988) Current techniques of limb lengthening. J Pediatr Orthop 8(1):73–92
Aldegheri R, Renzi-Brivio L, Agostini S (1989) The callotasis method of limb lengthening. Clin Orthop Relat Res 241:137–145
Ilizarov GA (1997) The principles of the Ilizarov method 1988. Bull Hosp Jt Dis 56(1):49–53
Wagner H (1972) Surgical lengthening or shortening of femur and tibia. Technique and indications. Orthopade 1:59–74
Garcia-Cimbrelo E, De Curto la Mano A, Garcia-Rey E, Cordero J, Marti-Ciruelos R (2002) The intramedullary elongation nail for femoral lengthening. J Bone Joint Surg Br 84(7):971–977. doi:10.1302/0301-620X.84B7.12984
Paley D (1990) Problems, obstacles, and complications of limb lengthening by the Ilizarov technique. Clin Orthop Relat Res 250:81–104
Eldridge JC, Bell DF (1991) Problems with substantial limb lengthening. Orthop Clin North Am 22(4):625–631
Garcia-Cimbrelo E, Olsen B, Ruiz-Yague M, Fernandez-Baillo N, Munuera-Martinez L (1992) Ilizarov technique. Results and difficulties. Clin Orthop Relat Res 283:116–123
Aquerreta JD, Forriol F, Canadell J (1994) Complications of bone lengthening. Int Orthop 18(5):299–303
Herzenberg JE, Scheufele LL, Paley D, Bechtel R, Tepper S (1994) Knee range of motion in isolated femoral lengthening. Clin Orthop Relat Res 301:49–54
Author information
Authors and Affiliations
Corresponding author
About this article
Cite this article
Fucentese, S.F., Neuhaus, T.J., Ramseier, L.E. et al. Metabolic and orthopedic management of X-linked vitamin D-resistant hypophosphatemic rickets. J Child Orthop 2, 285–291 (2008). https://doi.org/10.1007/s11832-008-0118-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11832-008-0118-9