Shimada Tsuneyuki, Maeda Tomoya, Ishikawa Maho, Okamura Daisuke, Ito Yoshihiro, Wakimoto Naoki, Nakamura Yuichi, Kawai Nobutaka, Ino Hirohide, Jinnai Itsuro, Mori Shigehisa, Matsuda Akira, Bessho Masami
Department of Hematology, Saitama Medical University Hospital.
Rinsho Ketsueki. 2012 Feb;53(2):224-8.
A 37-year-old female who presented with pancytopenia in April 2008 was diagnosed with aplastic anemia stage 2 with a normal karyotype. She had a PNH phenotype in her red blood cells (RBC) and granulocytes, and HLA DR15. Her aplastic anemia was deteriorated from stage 2 to stage 3, and she required periodic RBC transfusions. Four months after cyclosporine therapy, the pancytopenia improved and she did not need RBC transfusion. However, three months thereafter, she again required RBC transfusions after developing severe ulcerative colitis. Although mesalazine and steroid pulse therapy improved her ulcerative colitis, her transfusion dependency persisted. Eleven months after the diagnosis of aplastic anemia, equine anti-thymocyte globulin (ATG) and cyclosporine were administered, but no hematological improvement was obtained. Six months after the administration of ATG and cyclosporine, transformation to refractory cytopenia with multilineage dysplasia (RCMD) with 7-monosomy was observed. An allogeneic bone marrow transplant (BMT) from a HLA-identical sibling was performed 23 months after the diagnosis of aplastic anemia. Complete remission of both the aplastic anemia and ulcerative colitis was obtained without medication. Although the relationship between aplastic anemia and ulcerative colitis remains unclear, immunological abnormalities might be involved in the pathogenesis of both disorders because she had PNH phenotype in RBC and HLA DR15 and because allogeneic BMT improved both disorders.
一名37岁女性于2008年4月因全血细胞减少症就诊，被诊断为2期再生障碍性贫血，核型正常。她的红细胞（RBC）和粒细胞具有阵发性睡眠性血红蛋白尿（PNH）表型，且携带HLA DR15。她的再生障碍性贫血从2期恶化为3期，需要定期输注红细胞。环孢素治疗4个月后，全血细胞减少症有所改善，她不再需要输注红细胞。然而，3个月后，她在患上严重溃疡性结肠炎后再次需要输注红细胞。尽管美沙拉嗪和类固醇冲击疗法改善了她的溃疡性结肠炎，但她对输血的依赖仍然存在。再生障碍性贫血诊断11个月后，给予马抗胸腺细胞球蛋白（ATG）和环孢素治疗，但血液学方面未获改善。给予ATG和环孢素6个月后，观察到转变为伴有7号染色体单体的多系发育异常难治性血细胞减少症（RCMD）。再生障碍性贫血诊断23个月后，进行了来自HLA相同同胞的异基因骨髓移植（BMT）。未用药情况下再生障碍性贫血和溃疡性结肠炎均完全缓解。尽管再生障碍性贫血与溃疡性结肠炎之间关系尚不清楚，但免疫异常可能参与了这两种疾病的发病机制，因为她的红细胞具有PNH表型且携带HLA DR15，并且异基因BMT改善了这两种疾病。
