Mulder A L, van den Bos S N, Gerrits G P, Theunissen P M
Ziekenhuis De Wever en Gregorius, afd. Kindergeneeskunde, Heerlen.
Ned Tijdschr Geneeskd. 1997 Jul 5;141(27):1345-8.
Hypophosphatasia was diagnosed in two boys aged four months and two years. This is a rare hereditary bone disease characterized by deficient activity of enzyme alkaline phosphatase. Increased levels of substrates of this enzyme are found: phosphoethanolamine in urine and pyridoxal phosphate in serum. Patients show defective bone mineralization, which results in severe deformities of limbs, thorax and skull and dental abnormalities (loss of teeth and caries). The disease is classified in four age-related forms: perinatal, infantile, childhood and adult hypophosphatasia. The perinatal form is usually lethal. There is no curative therapy. Recognition of the disease is of importance for genetic counselling.
两名分别为4个月和2岁的男童被诊断为低磷酸酯酶症。这是一种罕见的遗传性骨病，其特征是碱性磷酸酶活性不足。发现该酶的底物水平升高：尿液中的磷酸乙醇胺和血清中的磷酸吡哆醛。患者表现出骨矿化缺陷，这会导致四肢、胸部和颅骨严重畸形以及牙齿异常（牙齿脱落和龋齿）。该疾病分为四种与年龄相关的类型：围生期、婴儿期、儿童期和成人低磷酸酯酶症。围生期类型通常是致命的。目前没有治愈性疗法。认识该疾病对遗传咨询很重要。
