Silverstein E, Friedland J, Vuletin J C
Am J Clin Pathol. 1978 Apr;69(4):467-71. doi: 10.1093/ajcp/69.4.467.
Serum angiotensin-converting enzyme in a patient with type 2 acute neuronopathic Gaucher's disease (242 nmol/min/ml) was 10.8 times higher than values for eight patients with other hereditary neurologic abnormalities (22.5 +/- 2.0) and 9.4 times higher than those for 12 patients with other diseases (25.7 +/- 2.6) (P less than 0.001). Serum lysozyme was not elevated in the patient with type 2 Gaucher's disease. These results indicate that elevated serum angiotensin-converting enzyme in an infant with neurologic involvement and hepatosplenomegaly is suggestive of the possibility of type 2 Gaucher's disease. Typical Gaucher's cells and fibrosis were observed by light and electron microscopy of the liver. An aspect hitherto unreported in Gaucher's disease or in the liver was that approximately 20% of the collagen fibrils were of the long-spacing type, with periodicity of 1,000 to 1,100 A and diameters of 900 to 1,500 A.
一名2型急性神经元型戈谢病患者的血清血管紧张素转换酶（242纳摩尔/分钟/毫升）比8名患有其他遗传性神经异常的患者（22.5±2.0）高出10.8倍，比12名患有其他疾病的患者（25.7±2.6）高出9.4倍（P＜0.001）。2型戈谢病患者的血清溶菌酶未升高。这些结果表明，对于有神经受累和肝脾肿大的婴儿，血清血管紧张素转换酶升高提示可能患有2型戈谢病。通过肝脏的光镜和电镜观察到典型的戈谢细胞和纤维化。戈谢病或肝脏中迄今未报道的一个方面是，约20%的胶原纤维为长间距型，周期为1000至1100埃，直径为900至1500埃。
