Iqbal S J, Davies T, Holland S, Manning T, Whittaker P
Department of Chemical Pathology, Leicester Royal Infirmary, UK.
Ann Clin Biochem. 2000 Nov;37 ( Pt 6):775-80. doi: 10.1258/0004563001900093.
Hypophosphatasia is an hereditary disease characterized by low activity of total serum alkaline phosphatase (TALP) accompanied by a range of skeletal diseases. We have measured the main circulating alkaline phosphatase isoenzymes--bone (BALP), liver (LALP), intestinal (IALP), placental (PALP)--in six families with hypophosphatasia, using kinetic and electrophorectic methods. Our observations show that patients with skeletal disease tend to have a very low BALP activity. Patients even with undetectable LALP activity do not appear to manifest any clinical complications. Patients also showed proportionately high IALP activity. Since the production of significant IALP activity is not a constant feature in all healthy individuals, it remains to be established whether the survival of one of these patients (IALP > 80% of TALP) depended on the presence of circulating IALP.
低磷酸酯酶症是一种遗传性疾病，其特征为血清总碱性磷酸酶（TALP）活性降低，并伴有一系列骨骼疾病。我们采用动力学和电泳方法，对六个低磷酸酯酶症家族中的主要循环碱性磷酸酶同工酶——骨型（BALP）、肝型（LALP）、肠型（IALP）、胎盘型（PALP）进行了测定。我们的观察结果表明，患有骨骼疾病的患者往往BALP活性非常低。即使LALP活性检测不到的患者似乎也未表现出任何临床并发症。患者还表现出IALP活性相对较高。由于并非所有健康个体都会产生显著的IALP活性，因此其中一名患者（IALP>TALP的80%）的存活是否依赖于循环IALP的存在仍有待确定。
