Groth C G, Collste H, Dreborg S, Håkansson G, Lundgren G, Svennerholm L
Acta Paediatr Scand. 1979 Jul;68(4):475-9.
In Gaucher disease there is a deficiency of the lysosomal enzyme, cerebroside-beta-glucosidase, as a result of which cerebroside (glucosylcereamide) accumulates in various organs. In northern Sweden 22 patients with a juvenile form of this disease have been identified. In one such patient, a girl of 10 years, we have attempted enzyme replacement by renal transplantation. After this operation the hepatic glucocerebroside content fell significantly. In another child afflicted with Gaucher disease in whom splenectomy was performed for severe splenomegaly and hypersplenism there was a progressive increase in the level of this lipid. These findings suggest that enzyme replacement was achieved by transplantation of a normal organ.
在戈谢病中，由于溶酶体酶β-葡萄糖脑苷脂酶缺乏，导致脑苷脂（葡萄糖基神经酰胺）在各个器官中蓄积。在瑞典北部，已确诊22例青少年型戈谢病患者。在其中一名患者，一名10岁女孩身上，我们尝试通过肾移植进行酶替代治疗。手术后，肝脏中葡萄糖脑苷脂含量显著下降。在另一名患有戈谢病的儿童中，因严重脾肿大和脾功能亢进进行了脾切除术，该脂质水平却逐渐升高。这些发现表明，通过移植正常器官实现了酶替代。
