Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets

Melinda S. Sharkey, Karl Grunseich, Thomas O. Carpenter

Research output: Contribution to journalReview article

16 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)433-442
Number of pages10
JournalJournal of the American Academy of Orthopaedic Surgeons
Volume23
Issue number7
DOIs
StatePublished - Jul 26 2015
Externally publishedYes

ASJC Scopus subject areas

  • Surgery
  • Orthopedics and Sports Medicine

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