Bone-marrow transplantation in severe Gaucher's disease.
Bone-marrow transplantation in severe Gaucher's disease.
复制标题
严重戈谢病的骨髓移植。
DOI：
10.1056/nejm198407123110203
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发表时间：
1984
期刊：
影响因子：
--
通讯作者：
Ginns,EI
中科院分区：
文献类型：
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作者：
Rappeport,JM;Ginns,EI
我们对一名患有3型戈谢病的八岁患者进行了正常细胞的异基因骨髓移植，试图改变他的进行性恶化。该程序导致酶促正常供体细胞的完全植入。移植后28天，供体单核细胞前体存在于受体的循环中。移植后外周血单个核白色细胞中β-葡萄糖脑苷脂酶活性超过正常水平。尽管有这些早期结果，但在至少111天的时间里，骨髓中的戈谢细胞浸润没有变化，戈谢细胞在骨髓中持续存在至少274天。血浆葡萄糖脑苷脂浓度最终恢复正常。在移植后过程中，直到患者死于败血症发作，他的临床状态没有重要变化。然而，该病例表明，戈谢病造血细胞中的酶异常可通过骨髓移植纠正，从而使血浆葡萄糖脑苷脂水平正常化。我们观察到戈谢氏细胞的长期存活，这与缺乏临床改善一致。在疾病的早期进行干预可能会更有效。（N Engl J Med 1984; 311：84-8.）
We performed allogeneic bone-marrow transplantation of normal cells in an eight-year-old patient with Type 3 Gaucher's disease in an attempt to alter his progressive deterioration. The procedure resulted in complete engraftment of the enzymatically normal donor cells. Donor monocyte precursors were present in the circulation of the recipient by 28 days after transplantation. Post-transplantation β-glucocerebrosidase activity in mononuclear white cells in peripheral blood exceeded normal levels. Despite these early results no change in Gaucher's-cell infiltration of the bone marrow was noted for at least 111 days, and Gaucher's cells persisted in the marrow for at least 274 days. The plasma glucocerebroside concentration ultimately returned to normal. During the post-transplantation course, until the patient died from an episode of sepsis, there was no important change in his clinical status. However, this case demonstrates that the enzymatic abnormality in hematopoietic cells in Gaucher's disease is correctable by bone-marrow transplantation, leading to normalization of plasma levels of glucocerebroside. We observed the long survival of Gaucher's cells, which was consistent with the lack of clinical improvement. Intervention might have been more effective earlier in the course of the disease. (N Engl J Med 1984; 311:84–8.)