Zanis-Neto J, Ribeiro R C, Medeiros C, Andrade R J, Ogasawara V, Hüsh M, Magdalena N, Friedrich M L, Bitencourt M A, Bonfim C
Department of Internal Medicine, Hospital de Clinicas, Universidade Federal do Paraná, Curitiba, Brazil.
Bone Marrow Transplant. 1995 Feb;15(2):293-8.
Although bone marrow transplantation (BMT) can eliminate the hematologic manifestations of Fanconi anemia (FA), patients are unusually susceptible to complications associated with the use of cyclophosphamide (CY) in the conditioning regimen. To investigate modifications of the conditioning regimen, we reviewed the records of 24 patients with FA who received an allogeneic BMT. All patients presented with severe pancytopenia. One patient was transplanted with overt leukemia as well. Donors were HLA-identical siblings in 22 cases and 1- and 2-antigen mismatched relatives in two cases, respectively. All conditioning regimens included CY 200 mg/kg in 10 patients; 140 mg/kg with or without antithymocyte globulin in 12 and 20 mg/kg with 400 cGy total body irradiation in two. GVHD prophylaxis comprised methotrexate and/or cyclosporine. Only one of 21 evaluable patients did not show signs of engraftment. Toxicities included grade III/IV mucositis in 20 patients, severe dermatitis in four and veno-occlusive disease in four. Acute GVHD (> or = grade II) occurred in nine of 22 patients. Four patients developed chronic GVHD. With a median follow-up time of 24 months, 14 of the 24 patients are alive with normal hematopoietic function. Eight of the 10 patients with matched sibling donors who were conditioned with CY 140 mg/kg are alive and well. We conclude that BMT is an effective treatment for FA. Conditioning regimens using lower doses of CY are associated with manageable toxicity and can potentially increase the survival rate of patients with HLA-matched donors.
尽管骨髓移植（BMT）可以消除范可尼贫血（FA）的血液学表现，但患者在预处理方案中使用环磷酰胺（CY）时异常容易出现并发症。为了研究预处理方案的调整，我们回顾了24例接受异基因BMT的FA患者的记录。所有患者均表现为严重全血细胞减少。1例患者还合并明显的白血病进行了移植。供者中22例为HLA全相合的同胞，2例分别为1抗原和2抗原不相合的亲属。所有预处理方案中，10例患者使用200mg/kg CY；12例使用140mg/kg CY，其中部分联合抗胸腺细胞球蛋白，2例使用20mg/kg CY并全身照射400cGy。预防移植物抗宿主病（GVHD）采用甲氨蝶呤和/或环孢素。21例可评估患者中仅1例未显示植入迹象。毒性反应包括20例患者出现III/IV级黏膜炎，4例出现严重皮炎，4例出现肝静脉闭塞病。22例患者中有9例发生急性GVHD（≥II级）。4例患者发生慢性GVHD。中位随访时间为24个月，24例患者中有14例存活且造血功能正常。10例接受140mg/kg CY预处理的HLA全相合同胞供者患者中有8例存活且情况良好。我们得出结论，BMT是治疗FA的有效方法。使用较低剂量CY的预处理方案毒性可控，可能提高HLA相合供者患者的生存率。
