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Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets

Sharkey, Melinda S. MD; Grunseich, Karl BA; Carpenter, Thomas O. MD

Journal of the American Academy of Orthopaedic Surgeons: July 2015 - Volume 23 - Issue 7 - p 433–442
doi: 10.5435/JAAOS-D-14-00082
Review Article

X-linked hypophosphatemia is an inheritable disorder of renal phosphate wasting that clinically manifests with rachitic bone pathology. X-linked hypophosphatemia is frequently misdiagnosed and mismanaged. Optimized medical therapy is the cornerstone of treatment. Even with ideal medical management, progressive bony deformity may develop in some children and adults. Medical treatment is paramount to the success of orthopaedic surgical procedures in both children and adults with X-linked hypophosphatemia. Successful correction of complex, multiapical bone deformities found in patients with X-linked hypophosphatemia is possible with careful surgical planning and exacting surgical technique. Multiple methods of deformity correction are used, including acute and gradual correction. Treatment of some pediatric bony deformity with guided growth techniques may be possible.

From the Yale Department of Orthopaedics and Rehabilitation (Dr. Sharkey), the Yale School of Medicine (Mr. Grunseich), and the Yale Department of Pediatrics and Endocrinology (Dr. Carpenter), New Haven, CT.

Dr. Carpenter or an immediate family member has received royalties from Alfa Aesar; serves as a paid consultant to Alexion, Alfa Aesar, Merck, and UltraGenyx; and has received research or institutional support from Merck, and UltraGenyx. Neither of the following authors nor any immediate family member has received anything of value from or has stock or stock options held in a commercial company or institution related directly or indirectly to the subject of this article: Dr. Sharkey and Mr. Grunseich.

© 2015 by American Academy of Orthopaedic Surgeons
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