Aboobacker Fouzia N, Kulkarni Uday P, Korula Anu, Devasia Anup J, Selvarajan Sushil, Lionel Sharon, Sindhuvi Eunice, Srivastava Alok, George Biju, Abraham Aby
Department of Hematology, Christian Medical College, Vellore, Tamil Nadu.
Blood Cell Ther. 2022 May 20;5(3):69-74. doi: 10.31547/bct-2021-020. eCollection 2022 Aug 25.
Allogeneic hematopoietic stem cell transplantation (HSCT) is a feasible treatment option for Gaucher disease (GD). Among 60 patients diagnosed with GD over 15 years (2004-2019), three children who underwent HSCT (January-November 2017) were analyzed. Two boys (cases 1 and 2) and one girl (case 3) received HSCT at 3, 7, and 10 years of age, respectively. Cases 1 and 3 received haplo-HSCT, while case 2 received HLA-identical related-donor transplantation. The CD 34 cell dose was 5-10×10/kg. Neutrophil and platelet engraftment were between days +14 to +21 and days +15 to +76. Post-HSCT chimerism was a 100% donor. None of the patients developed acute or significant chronic graft versus host disease (GVHD). All patients had febrile episodes with negative blood cultures. Major post-HSCT complications included EBV-viremia and recurrent lobar pneumonia in case 1, delayed engraftment and pure red cell aplasia (PRCA) in case 2, and pericardial effusion with tamponade in case 3. At a median of 49 months post-HSCT, all patients were stable with improved growth, absent organomegaly, and had completed immunization. The median cost of treatment was $23,038.96, which is 10.7%-13% of the yearly enzyme replacement therapy (ERT) cost. In a resource-limited setting like India, ERT is a financial burden and not a sustainable option. With improved treatment outcomes, haplo-HSCT is now a possible option for almost every patient, even if no HLA-identical donor is identified.
异基因造血干细胞移植（HSCT）是戈谢病（GD）一种可行的治疗选择。在15年（2004 - 2019年）间确诊的60例GD患者中，对3例接受HSCT的儿童（2017年1月至11月）进行了分析。2名男孩（病例1和病例2）和1名女孩（病例3）分别在3岁、7岁和10岁时接受了HSCT。病例1和病例3接受了单倍体HSCT，而病例2接受了HLA匹配的相关供体移植。CD 34细胞剂量为5 - 10×10/kg。中性粒细胞和血小板植入分别在第 +14至 +21天和第 +15至 +76天之间。HSCT后嵌合体为100%供体。所有患者均未发生急性或严重慢性移植物抗宿主病（GVHD）。所有患者均有发热发作，血培养阴性。HSCT后的主要并发症包括病例1的EB病毒血症和复发性大叶性肺炎、病例2的植入延迟和纯红细胞再生障碍（PRCA）以及病例3的心包积液伴心包填塞。在HSCT后中位49个月时，所有患者情况稳定，生长改善，无器官肿大，且已完成免疫接种。治疗的中位费用为23,038.96美元，占每年酶替代疗法（ERT）费用的10.7% - 13%。在印度这样资源有限的环境中，ERT是一项经济负担，并非可持续的选择。随着治疗效果的改善，即使未找到HLA匹配的供体，单倍体HSCT现在几乎对每个患者都是一种可行的选择。
