先天性再生障碍性贫血（戴蒙德-布莱克范综合征）骨髓移植后的长期生存与治愈情况。

Long-term survival and cure after marrow transplantation for congenital hypoplastic anaemia (Diamond-Blackfan syndrome).

作者信息

Greinix H T, Storb R, Sanders J E, Deeg H J, Doney K C, Sullivan K M, Witherspoon R P

机构信息

Division of Clinical Research, Fred Hutchinson Cancer Research Center, Seattle, Washington 98104.

出版信息

Br J Haematol. 1993 Jul;84(3):515-20. doi: 10.1111/j.1365-2141.1993.tb03109.x.

DOI:10.1111/j.1365-2141.1993.tb03109.x

PMID:8217802

Abstract

Four patients with Diamond-Blackfan syndrome (congenital hypoplastic anaemia) whose disease was resistant to corticosteroid treatment and who were red blood cell transfusion-dependent, were given marrow grafts from allogeneic human-leucocyte-antigen (HLA)-identical siblings. The patients were conditioned with regimens including cyclophosphamide and busulfan. Three of four patients had sustained and complete marrow engraftment. One patient showed early signs of haematopoietic recovery but died on day 35 of pulmonary toxicity. The three surviving patients are well with normal haematopoiesis and Karnofsky performance scores of 100%, 3.0, 7.4 and 10.6 years after transplantation. Congenital hypoplastic anaemia can be treated successfully by allogeneic marrow grafts.

摘要

4例患有先天性纯红细胞再生障碍性贫血（Diamond-Blackfan综合征）且对皮质类固醇治疗耐药、依赖红细胞输血的患者，接受了来自人类白细胞抗原（HLA）配型相同的同胞供体的骨髓移植。患者接受了包含环磷酰胺和白消安的预处理方案。4例患者中有3例实现了持续且完全的骨髓植入。1例患者出现了造血恢复的早期迹象，但在第35天死于肺部毒性。3例存活患者情况良好，移植后3.0年、7.4年和10.6年时造血功能正常，卡氏评分均为100%。先天性纯红细胞再生障碍性贫血可通过异基因骨髓移植成功治疗。