Silve C
Universite Denis Diderot, Paris, France.
Curr Opin Rheumatol. 1994 May;6(3):336-9. doi: 10.1097/00002281-199405000-00016.
Hereditary hypophosphatasia and hyperphosphatasia are two rare skeletal disorders, which commonly present during childhood and are characterized by a decrease and an increase, respectively, in serum tissue nonspecific alkaline phosphatase activity. The primary defect in hereditary hypophosphatasia appears to be a structural abnormality in the tissue nonspecific alkaline phosphatase gene, resulting in a decrease or absence of enzymatic activity. The pathogenesis of hyperphosphatasia is unknown. There is no treatment for hypophosphatasia. Treatment with pamidronate appears promising for patients with hereditary hyperphosphatasia.
遗传性低磷酸酯酶症和高磷酸酯酶症是两种罕见的骨骼疾病，通常在儿童期出现，其特征分别是血清组织非特异性碱性磷酸酶活性降低和升高。遗传性低磷酸酯酶症的主要缺陷似乎是组织非特异性碱性磷酸酶基因的结构异常，导致酶活性降低或缺乏。高磷酸酯酶症的发病机制尚不清楚。低磷酸酯酶症尚无治疗方法。对于遗传性高磷酸酯酶症患者，使用帕米膦酸盐治疗似乎有前景。
