Knudson A G, Di Ferrante N, Curtis J E
Proc Natl Acad Sci U S A. 1971 Aug;68(8):1738-41. doi: 10.1073/pnas.68.8.1738.
Treatment of a child affected by type II mucopolysaccharidosis (Hunter's syndrome) with leukocyte transfusions produced dramatic biochemical and clinical changes. The biochemical changes, consisting of greatly increased urinary excretion of glycosaminoglycans and their products of degradation, were transient. The clinical changes, on the other hand, were protracted, which suggests that the mobilization and degradation of stored glycosaminoglycans was not followed by their reaccumulation to initial levels. The effects obtained with this treatment are superior to those produced by plasma infusion, and have implications for therapeutic attempts in the treatment of other hereditary diseases.
用白细胞输血治疗一名患有II型黏多糖贮积症(亨特综合征)的儿童产生了显著的生化和临床变化。生化变化包括尿中糖胺聚糖及其降解产物排泄大幅增加,这些变化是短暂的。另一方面,临床变化是持久的,这表明储存的糖胺聚糖的动员和降解之后并未重新积累到初始水平。这种治疗所获得的效果优于血浆输注产生的效果,并且对其他遗传性疾病的治疗尝试具有启示意义。