Ozono Keiichi
Department of Pediatrics, Osaka University Graduate School of Medicine.
Clin Calcium. 2010 Aug;20(8):1220-7.
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.
低磷血症由组织非特异性碱性磷酸酶（ALP）缺陷引起，表现为骨骼矿化不足和骨佝偻病改变。低磷血症最严重的形式是围生期形式，也称为致死性形式。然而，由于新生儿学的进展，这种形式的一些患者能够存活。其他形式包括婴儿型、儿童型、成人型和牙型。低磷血症的传统治疗方法是给予维生素B6治疗惊厥，给予低钙牛奶治疗高钙血症。据报道，骨髓移植可治疗数例低磷血症患者。然而，必须开发出能提高供体间充质细胞在患者体内存活率的方法。重组骨靶向ALP疗法目前正在加拿大和美国进行临床试验，预计不久后可用。
