title: Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets.
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.
authors.forename: Melinda S
authors.initials: MS
authors.lastname: Sharkey
authors.forename: Karl
authors.initials: K
authors.lastname: Grunseich
authors.forename: Thomas O
authors.initials: TO
authors.lastname: Carpenter
mesh_terms: D000328:Adult; D019645:Arthroplasty, Replacement, Knee / Q000379:methods; D015415:Biomarkers / Q000097:blood; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D002648:Child; D004872:Ergocalciferols / Q000627:therapeutic use; D053098:Familial Hypophosphatemic Rickets / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery* / Q000628:therapy; D005593:Fracture Fixation, Internal / Q000379:methods; D006801:Humans; D016268:Internal Fixators; D009154:Mutation; D010027:Osteotomy / Q000379:methods; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000097:blood; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; D050071:Bone Density Conservation Agents; D004872:Ergocalciferols; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human