Harada M, Misugi K
Acta Pathol Jpn. 1975 Sep;25(5):635-47. doi: 10.1111/j.1440-1827.1975.tb01996.x.
The autopsy findings of two cases of infantile hypophosphatasia are described and compared with those of 16 previously reported cases. Histochemical and biochemical tissue analysis for alkaline phosphatase showed a marked decrease in activity in liver, kidney, and bones. However, intestinal alkaline phosphatase possessed normal or slightly elevated activity. Nephrocalcinosis is a frequent complication and its development depends on hypercalcemia and length of survival of the patient. Electron microscopic findings are illustrated, and a mechanism for the development of nephrocalcinosis is proposed. For the first time, marked elevations of parathyroid hormone was detected. This finding, coupled with the extreme difficulty in locating the parathyroid glands in cases of hypophosphatasia, is enigmatic. Areas for furture investigation are suggested.
描述了两例婴儿低磷酸酯酶症的尸检结果，并与之前报道的16例病例进行了比较。对碱性磷酸酶进行的组织化学和生化组织分析显示，肝脏、肾脏和骨骼中的活性显著降低。然而，肠道碱性磷酸酶的活性正常或略有升高。肾钙质沉着症是一种常见的并发症，其发生取决于高钙血症和患者的存活时间。展示了电子显微镜检查结果，并提出了肾钙质沉着症的发生机制。首次检测到甲状旁腺激素显著升高。这一发现，再加上在低磷酸酯酶症病例中定位甲状旁腺极其困难，令人费解。提出了未来研究的方向。
