Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
复制标题
DOI：
10.1016/s0002-9343(02)01150-6
复制
发表时间：
2002-08-01
影响因子：
5.9
通讯作者：
Zimran, A
中科院分区：
文献类型：
--
作者：
Weinreb, NJ;Charrow, J;Zimran, A
目的：戈谢病是第一个用巨噬细胞靶向酶替代疗法治疗的溶酶体贮积症。以前在相对少数患者中进行的研究证明了这种治疗的短期疗效。本研究描述了2至5年的治疗对1型Gaucher病的具体表现的影响。对象和方法：医生报告的数据从1028例患者的Gaucher登记。反应的评估包括血红蛋白浓度，血小板计数，肝脏和脾脏体积，并发生骨痛和骨crisises.Results：在贫血患者，血红蛋白浓度增加到正常或接近正常6至12个月内，通过5年的持续反应系列测量。在脾完整的血小板减少患者中，最快的反应发生在前2年，此后改善较慢。血小板计数正常的可能性随着基线血小板减少症严重程度的增加而降低。在接受脾切除术的患者中，血小板计数在6至12个月内恢复正常。随访期间，肝肿大减少了30%至40%;脾肿大减少了50%至60%，但很少体积低于正常大小的五倍。在治疗前骨痛或骨危机的患者中，52%（67/128）的疼痛免费后2年和94%（48/51）报告没有额外的crises.CONCLUSION：酶替代治疗可预防戈谢病的进展表现，并改善戈谢病相关性贫血，血小板减少症，器官肿大，骨痛和骨危机。
PURPOSE: Gaucher disease is the first lysosomal storage disorder to be treated with macrophage-targeted enzyme replacement therapy. Previous studies in relatively small numbers of patients demonstrated short-term efficacy of this treatment. This study describes the effects of 2 to 5 years of treatment on specific manifestations of type 1 Gaucher disease.SUBJECTS AND METHODS: Physicians reported data from 1028 patients to the Gaucher Registry. Assessment of response included serial measurements of hemoglobin concentration, platelet count, liver and spleen volumes, and the occurrence of bone pain and bone crises.RESULTS: Among anemic patients, hemoglobin concentration increased to normal or near normal within 6 to 12 months, with a sustained response through 5 years. In thrombocytopenic patients with intact spleens, the most rapid response occurred during the first 2 years, with slower improvement thereafter. The likelihood of achieving a normal platelet count decreased with increasing severity of baseline thrombocytopenia. In patients who had undergone splenectomy, platelet counts returned to normal within 6 to 12 months. Hepatomegaly decreased by 30% to 40% during follow-up; splenomegaly decreased 50% to 60%, but rarely to volumes below five times normal size. In patients with pretreatment bone pain or bone crises, 52% (67/128) were pain free after 2 years and 94% (48/51) reported no additional crises.CONCLUSION: Enzyme replacement therapy prevents progressive manifestations of Gaucher disease, and ameliorates Gaucher disease-associated anemia, thrombocytopenia, organomegaly, bone pain, and bone crises.