REPLACEMENT THERAPY FOR INHERITED ENZYME DEFICIENCY - USE OF PURIFIED GLUCOCEREBROSIDASE IN GAUCHERS-DISEASE
REPLACEMENT THERAPY FOR INHERITED ENZYME DEFICIENCY - USE OF PURIFIED GLUCOCEREBROSIDASE IN GAUCHERS-DISEASE
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DOI：
10.1056/nejm197411072911901
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发表时间：
1974-01-01
影响因子：
158.5
通讯作者：
DEKABAN, AS
中科院分区：
文献类型：
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作者：
BRADY, RO;PENTCHEV, PG;DEKABAN, AS
研究了从人胎盘中分离的葡萄糖脑苷酶静脉给药对两例戈谢病患者的影响，他们缺乏这种酶。第1组1次注射1.5 × 106单位葡萄糖脑苷酶，第2组1次注射1.65 × 106单位，连续2天。注射酶前和注射酶后24小时分别行肝活检。第1例患者在输注葡萄糖脑苷酶后肝脏中葡萄糖脑苷含量从702 μg / g湿重降至519 μg / g，第2例患者肝脏中葡萄糖脑苷含量从1634 μg / g降至1214 μg / g。两例患者输注前红细胞中糖脑苷含量分别为7.4、6.2 μg / ml细胞，输注后72h红细胞中糖脑苷含量分别为2.9、2.6 μg / ml细胞。这些结果表明，外源性葡萄糖脑苷酶导致戈谢病患者积累的脂质数量明显减少。[J] .中华医学杂志，2004(3):389 - 393。
The effect of intravenous administration of glucocerebrosidase isolated from human placenta was investigated in two patients with Gaucher's disease who are deficient in this enzyme. The first received one injection of 1.5 x 106units of glucocerebrosidase, and the second an injection of 1.65 x 106units on two successive days. Liver biopsies were obtained before and 24 hours after injection of enzyme. Glucocerebroside in the liver of the first patient decreased from 702 to 519 μg per gram wet weight and from 1634 to 1214 μg per gram in the second after infusion of glucocerebrosidase. The quantity of glucocerebroside in erythrocytes of the two patients before infusion was 7.4 and 6.2 μg per milliliter of cells respectively and 2.9 and 2.6 μg per milliliter of cells 72 hours afterward. These findings indicate that exogenous glucocerebrosidase causes definite decreases in the quantity of accumulated lipid in patients with Gaucher's disease. (N Engl J Med 291:989–993, 1974)