title: [Genetic basis for skeletal disease. Clinical characteristics of hypophosphatasia and its treatment].
abstract: Hypophosphatsia is caused by the defect of tissue-nonspecific alkaline phosphatase (ALP), and exhibits hypomineralization of skeleton and rachitic change of bone. The most severe form of hypophosphatasia is a perinatal form, which is also called a lethal form. However, some patients of this form can survive due to advances in neonatology. Other forms consist of infantile, childhood, adult and odonto types. Conventional therapies for hypophosphatasia are administration of vitamin B6 for convulsion and low calcium-containing milk for hypercalcemia. Bone marrow transplantation has been reported to treat several patients with hypophosphatasia. However, the method must be developed which improves the survival of donor mesenchymal cells in patients. Recombinant bone-targeted ALP therapy is now on clinical trial in Canada and U.S.A and expected to be available in near future.
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
mesh_terms: D000328:Adult; D000469:Alkaline Phosphatase / Q000172:deficiency* / Q000627:therapeutic use*; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D016026:Bone Marrow Transplantation; D001842:Bone and Bones / Q000378:metabolism; D002113:Calcification, Physiologic; D002136:Calcium, Dietary / Q000008:administration & dosage; D002986:Clinical Trials as Topic; D006801:Humans; D007014:Hypophosphatasia / Q000145:classification / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy*; D059630:Mesenchymal Stem Cells; D010281:Parathyroid Hormone / Q000627:therapeutic use; D057089:Pathology, Molecular; D011994:Recombinant Proteins / Q000627:therapeutic use; D025101:Vitamin B 6 / Q000008:administration & dosage
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; D002136:Calcium, Dietary; D010281:Parathyroid Hormone; D011994:Recombinant Proteins; D025101:Vitamin B 6; D000469:Alkaline Phosphatase