Management of X-linked hypophosphatemia in adults.

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Abstract

[Indexed for MEDLINE] Conflict of interest statement: Declaration of Competing Interest ALL has no conflict of interest to declare. MLB reports personal fees from Amgen, Bruno Farmaceutici, Kyowa Kirin, grants and personal fees from Abiogen, Alexion, Amgen, Bruno Farmaceutici, Eli Lilly, Kyowa Kirin, MSD, NPS, Servier, Shire, SPA, personal fees from Alexion, Bruno Farmaceutici, Kyowa Kirin, Servier, Shire, outside the submitted work. AL has received speaker's fees, travel grants and invitations to congresses by Kyowa Kirin. She was investigator in the UX023-CL201 study sponsored by Ultragenyx. PK has received speaker's fees, travel grants and invitation to congresses by Kyowa Kirin. He was investigator of the UX023 CL303 (reference #76) and UX023 CL304 (reference #77) studies sponsored by Ultragenyx. 7. Clin Orthop Relat Res. 1993 Sep;(294):34-44. Osteopetrosis. Current clinical considerations. Shapiro F(1). Author information: (1)Department of Orthopaedic Surgery, Children's Hospital, Boston, MA 02115. Osteopetrosis is an inherited skeletal condition characterized by increased bone radiodensity. There are three clinical groups: infantile-malignant autosomal recessive, fatal within the first few years of life (in the absence of effective therapy); intermediate autosomal recessive, appears during the first decade of life but does not follow a malignant course; and autosomal dominant, with full-life expectancy but many orthopaedic problems. The infantile variant shows a myelophthisic anemia, granulocytopenia, and thrombocytopenia, and patients eventually die from infection or bleeding or both. Neurologic sequelae include cranial nerve compression (optic nerve, blindness; auditory nerve, deafness; facial nerve, paresis), hydrocephalus, convulsions, and mental retardation. Radiographs show uniform bone density without corticomedulary demarcation, broadened metaphyses, "bone within a bone" or endobone phenomena (tarsals, carpals, phalanges, vertebra, ilium), and thickened growth plates if there is superimposed rickets. Transverse pathologic fractures occur, often followed by massive periosteal bone formation. Computed tomographic scans, magnetic resonance imaging, and bone scans provide specific information. Iliac crest bone biopsy is valuable to quantitate osteoclast and marrow changes by light and electron microscopy. Medical treatments involve high-dose calcitriol to stimulate osteoclast differentiation and bone marrow transplantation to provide monocytic osteoclast precursors. Orthopaedic problems in the intermediate and autosomal dominant forms include increased fractures, coxa vara, long-bone bowing, hip and knee degenerative arthritis, and mandibular and long-bone osteomyelitis. Cranial nerve compression also occurs. Osteotomy, plating, intramedullary rodding, and joint arthroplasty can be done, but are difficult because of bone hardness.