HEMATOPOIETIC RECONSTITUTION IN A PATIENT WITH FANCONIS ANEMIA BY MEANS OF UMBILICAL-CORD BLOOD FROM AN HLA-IDENTICAL SIBLING
HEMATOPOIETIC RECONSTITUTION IN A PATIENT WITH FANCONIS ANEMIA BY MEANS OF UMBILICAL-CORD BLOOD FROM AN HLA-IDENTICAL SIBLING
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DOI：
10.1056/nejm198910263211707
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发表时间：
1989-10-26
影响因子：
158.5
通讯作者：
BOYSE, EA
中科院分区：
文献类型：
--
作者：
GLUCKMAN, E;BROXMEYER, HE;BOYSE, EA
范可尼贫血是一种常染色体隐性遗传疾病，其临床表现包括进行性全细胞增多、肿瘤形成倾向和非造血发育异常[1-3]。对DNA交联剂（如二环氧丁烷）的致染色体断裂作用的超敏反应可作为产前和产后范可尼贫血基因型的诊断指标[3-6]。产前HLA分型可以确定胎儿是否与受影响的兄弟姐妹HLA相同[7]。我们在这里报告造血重建的男孩与严重范可尼氏贫血谁收到冷冻保存脐带血从一个妹妹产前检查显示，不受疾病，有一个正常的核型，并与患者的HLA相同。我们使用了专门为治疗此类患者而开发的移植前预处理程序[8];该技术利用了异常细胞对交联DNA的烷化剂[9，10]和辐射[11]的超敏性。在这种情况下，脐带血的可用性消除了从婴儿兄弟姐妹获得骨髓的需要。这种脐带血的使用遵循了我们中的一个人的建议，即在分娩时从脐带中提取的血液（通常被丢弃）可能会恢复造血-这一建议得到了我们中一些人的预备研究的支持[12]，并且与关于造血干细胞和多潜能细胞存在的报告一致。人脐带血中的CFU-GEMM（CFU-GEMM）、红系（BFU-E）和粒细胞-巨噬细胞（CFU-GM）祖细胞（参见Broxmeyer et al. [12]）.© 1989年马萨诸塞州医学会。All rights reserved.
The clinical manifestations of Fanconi's anemia, an autosomal recessive disorder, include progressive pancyto-penia, a predisposition to neoplasia, and nonhematopoietic developmental anomalies [1-3]. Hypersensitivity to the clastogenic effect of DNA-cross-linking agents such as diepoxybutane acts as a diagnostic indicator of the genotype of Fanconi's anemia, both prenatally and postnatally [3-6]. Prenatal HLA typing has made it possible to ascertain whether a fetus is HLA-identical to an affected sibling [7]. We report here on hematopoietic reconstitution in a boy with severe Fanconi's anemia who received cryo-pre-served umbilical-cord blood from a sister shown by prenatal testing to be unaffected by the disorder, to have a normal karyotype, and to be HLA-identical to the patient. We used a pretransplantation conditioning procedure developed specifcally for the treatment of such patients [8]; this technique makes use of the hypersensitivity of the abnormal cells to alkylating agents that cross-link DNA [9, 10] and to irradiation [11] In this case, the availability of cord blood obviated the need for obtaining bone marrow from the infant sibling. This use of cord blood followed the suggestion of one of us that blood retrieved from umbilical cord at delivery, usually discarded, might restore hematopoiesis-a proposal supported by preparatory studies by some of us [12] and consistent with reports on the presence of hematopoietic stem and multipotential (CFU-GEMM), erythroid (BFU-E), and granulocyte-macrophage (CFU-GM) progenitor cells in human umbilical-cord blood (see the references cited by Broxmeyer et al.[12]).© 1989 Massachusetts Medical Society. All rights reserved.