Gaucher disease: Enzyme therapy in the acute neuronopathic variant
Gaucher disease: Enzyme therapy in the acute neuronopathic variant
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DOI：
10.1002/(sici)1096-8628(19970711)71:1
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发表时间：
1997-07-11
期刊：
影响因子：
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通讯作者：
Grabowski, GA
中科院分区：
文献类型：
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作者：
Prows, CA;Sanchez, N;Grabowski, GA
定期静脉酶输注的反应进行了比较，在两个同胞与戈谢病2型，急性神经元病变的变种。在患有严重进行性内脏和神经病变的患者1中，酶给药在7个月时开始。未观察到酶输注的显著影响，9个月时发生死亡。患者2是产前诊断和酶输注开始在4天的年龄。总体发育进展速度与其未受影响的全同胞相似，直至其在15.1个月时死亡。8个月时开始出现缓慢进行性内斜视、眼麻痹和吞咽困难，浸润性肺病也是如此。这些临床过程的比较表明，预期酶治疗对2型戈谢病的内脏和神经系统有显著影响，但结果不变。(C)1997 Wiley-Liss，Inc.
The responses to regular intravenous enzyme infusions were compared in two sibs with Gaucher disease type 2, the acute neuronopathic variant. Enzyme administration was begun at 7 months in patient 1 who had severe progressive visceral and neuronopathic disease. No significant effect of enzyme infusions was noted, Death occurred at 9 months. Patient 2 was prenatally diagnosed and enzyme infusions were initiated at age 4 days. Overall development progressed at a rate similar to her unaffected full sib until her death at 15.1 months. Slowly progressive esotropia, ocular paresis and dysphagia began at 8 months as did infiltrative pulmonary disease. Comparison of these clinical courses show significant visceral and neurologic effects of anticipatory enzyme therapy, but with unaltered outcome, for Gaucher disease type 2. (C) 1997 Wiley-Liss, Inc.