Tezcan I, Tuncer M, Uçkan D, Cetin M, Alikaşifoğlu M, Ersoy F, Altay C
Pediatric Immunology, Hacettepe University Medical School, Ihsan Doğramaci , Children's Hospital, Ankara, Turkey.
Pediatr Transplant. 1998 Aug;2(3):236-9.
Bone marrow transplantation (BMT) is currently the treatment of choice for patients with Fanconi anemia (FA) if a suitable donor is available. Four children with FA underwent allogeneic BMT from HLA-identical siblings during the period from 1995 to 1996. Pretransplant conditioning was Cyclophosphamide (Cy) (20 mg/kg) + Thoracoabdominal irradiation (TAI) (500 cGy) +/- Antithymocyte globulin (ATG) (2 mg/kg/day x 3). Cyclosporin A (CsA) was used as GvHD prophylaxis. The time of neutrophil (ANC>500) and platelet (>50,000) recovery were at 11-14 and 17-25 days, respectively. One patient with a pretransplant history of multiple transfusions experienced graft rejection and died at day +29 with infection and bleeding. Although three patients sustained engraftment one developed donor originated acute lymphoblastic leukemia (ALL) 18 months after BMT and died with CNS hemorrhage and infection at +25 months following 7 months of chemotherapy. None of the patients developed grade 3-4 acute GvHD. Cytotoxicity included grade II mucositis in all and severe gastroenteritis in one patient. During a follow-up period of 10 months and 2 years, two patients are well with normal blood count, recovering immune function and have a Karnofsky score of 90%.
如果有合适的供体，骨髓移植（BMT）目前是范可尼贫血（FA）患者的首选治疗方法。1995年至1996年期间，4名FA患儿接受了来自 HLA 相同同胞的异基因BMT。移植前预处理为环磷酰胺（Cy）（20mg/kg）+胸腹联合照射（TAI）（500cGy）+/-抗胸腺细胞球蛋白（ATG）（2mg/kg/天×3天）。使用环孢素A（CsA）预防移植物抗宿主病（GvHD）。中性粒细胞（ANC>500）和血小板（>50,000）恢复的时间分别为11 - 14天和17 - 25天。一名移植前有多次输血史的患者发生了移植物排斥反应，于+29天因感染和出血死亡。虽然3名患者实现了植入，但其中1名患者在BMT后18个月发生了供体来源的急性淋巴细胞白血病（ALL），在化疗7个月后于+25个月因中枢神经系统出血和感染死亡。所有患者均未发生3 - 4级急性GvHD。细胞毒性包括所有患者均出现II级粘膜炎，1名患者出现严重肠胃炎。在10个月和2年的随访期内，2名患者情况良好，血细胞计数正常，免疫功能恢复，卡氏评分90%。
