Beutler E, Dale G L, Guinto D E, Kuhl W
Proc Natl Acad Sci U S A. 1977 Oct;74(10):4620-3. doi: 10.1073/pnas.74.10.4620.
A patient with far-advanced adult type Gaucher's disease was treated with solubilized, highly purified placental glucocerebrosidase administered after entrapment in human erythrocytes or by direct intravenous injection. In some instances the enzyme-containing erythrocytes were coated with gamma globulin. No toxic side effects were observed after enzyme infusion. There were suggestive, but not conclusive, findings that enzyme infusion may have been beneficial. After therapy, there was a decrease in transfusion requirement, some improvement of liver function, possible decrease in liver size, and relief of subjective symptoms. Erythrocyte and plasma glucocerebroside levels were unchanged during therapy, but there was a possibly significant decrease in leukocyte and platelet levels of the glycolipid. No changes occurred in serum acid phosphatase or angiotensin-converting enzyme activity.
一名患有晚期成人型戈谢病的患者接受了溶解并高度纯化的胎盘葡萄糖脑苷脂酶治疗，该酶通过包裹在人红细胞中或直接静脉注射给药。在某些情况下，含酶红细胞用γ球蛋白包被。酶输注后未观察到毒性副作用。有提示性但非结论性的发现表明酶输注可能有益。治疗后，输血需求减少，肝功能有所改善，肝脏大小可能减小，主观症状缓解。治疗期间红细胞和血浆葡萄糖脑苷脂水平未变，但糖脂的白细胞和血小板水平可能有显著下降。血清酸性磷酸酶或血管紧张素转换酶活性无变化。
