Ikushima S, Hibi S, Todo S, Sawada T, Matsumoto Y, Iwami H, Tsunamoto K, Kasubuchi Y, Yabe M, Kato S
Department of Pediatrics, Children's Research Hospital, Kyoto Prefectural University of Medicine, Japan.
Bone Marrow Transplant. 1995 Oct;16(4):621-4.
We report the case of a 14-year-old boy with myelodysplastic syndrome (MDS/RAEB) which developed following Fanconi anemia. The patient received BMT from an HLA-identical sister. Based on the in vitro CY-sensitivity test, 100 mg/kg of CY was administered for conditioning combined with 6 Gy TBI. Mucosal symptoms such as stomatitis, diarrhea and hematuria were severe, but manageable, and engraftment was successful. The patient has maintained normal trilineage hematopoiesis with > 90% Karnofsky score for 30 months with disappearance of a clonal chromosomal abnormality (47,XY, +i(lq)) which was detected before BMT.
我们报告了一例14岁患有骨髓增生异常综合征（MDS/RAEB）的男孩，该疾病继发于范可尼贫血。患者接受了来自 HLA 配型相同姐姐的骨髓移植。根据体外环磷酰胺（CY）敏感性试验，给予100mg/kg的CY进行预处理，并联合6Gy的全身照射（TBI）。口腔炎、腹泻和血尿等黏膜症状严重，但可控制，且移植成功。患者已维持正常的三系造血，卡诺夫斯基评分>90%，持续30个月，骨髓移植前检测到的克隆性染色体异常（47,XY, +i(1q)）消失。
