Abstract：
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome is usually fatal, the most effective treatment appears to be hematopoietic stem cell transplantation (HSCT).
In this retrospective study, we evaluated HSCT that was performed using a reduced toxicity myeloablative conditioning regimen in patients with MNGIE at our center.
A total of six allogeneic transplant procedures were performed in four patients. Three patients had fully matched donors, and one patient had a haploidentical donor. Treosulfan-based myeloablative conditioning regimen was applied in five of six transplants. Bone marrow was used as a stem cell source. One patient is being followed up in the 4th year of posttransplant with full chimeric and without graft versus host disease (GVHD). One patient died of acute stage IV gastrointestinal system GVHD. Two patients underwent second transplantation due to engraftment failure, one of which was the patient who had a haploidentical transplant.
Treosulfan-based regimen is well tolerated, although engraftment failure with this conditioning regimen can be a significant problem. We share our haploidentical transplant experience, which will be the first reported case in the literature.
In this retrospective study, we evaluated HSCT that was performed using a reduced toxicity myeloablative conditioning regimen in patients with MNGIE at our center.
A total of six allogeneic transplant procedures were performed in four patients. Three patients had fully matched donors, and one patient had a haploidentical donor. Treosulfan-based myeloablative conditioning regimen was applied in five of six transplants. Bone marrow was used as a stem cell source. One patient is being followed up in the 4th year of posttransplant with full chimeric and without graft versus host disease (GVHD). One patient died of acute stage IV gastrointestinal system GVHD. Two patients underwent second transplantation due to engraftment failure, one of which was the patient who had a haploidentical transplant.
Treosulfan-based regimen is well tolerated, although engraftment failure with this conditioning regimen can be a significant problem. We share our haploidentical transplant experience, which will be the first reported case in the literature.
摘要：
背景：线粒体神经胃肠脑肌病（MNGIE）是一种罕见的常染色体隐性遗传疾病，原因是TYMP基因突变。临床表现以神经系统表现和严重的胃肠功能障碍为特征。这种综合征通常是致命的，最有效的治疗方法似乎是造血干细胞移植(HSCT).
方法：在这项回顾性研究中，我们评估了本中心MNGIE患者使用低毒性清髓性预处理方案进行的HSCT.
结果：4例患者共进行了6次同种异体移植手术。三名患者的捐赠者完全匹配，一名患者有一个单倍体相同的供体。在6例移植中的5例应用了基于曲硫丹的清髓性预处理方案。使用骨髓作为干细胞来源。一名患者在移植后第4年接受全嵌合且无移植物抗宿主病（GVHD）的随访。1例患者死于急性IV期胃肠道系统GVHD。两名患者由于植入失败而进行了第二次移植，其中一位是接受了单倍体移植的患者。
结论：基于曲硫丹的治疗方案耐受性良好，尽管这种调理方案的植入失败可能是一个重大问题。我们分享我们的单倍体移植经验，这将是文献中第一个报道的病例。
方法：在这项回顾性研究中，我们评估了本中心MNGIE患者使用低毒性清髓性预处理方案进行的HSCT.
结果：4例患者共进行了6次同种异体移植手术。三名患者的捐赠者完全匹配，一名患者有一个单倍体相同的供体。在6例移植中的5例应用了基于曲硫丹的清髓性预处理方案。使用骨髓作为干细胞来源。一名患者在移植后第4年接受全嵌合且无移植物抗宿主病（GVHD）的随访。1例患者死于急性IV期胃肠道系统GVHD。两名患者由于植入失败而进行了第二次移植，其中一位是接受了单倍体移植的患者。
结论：基于曲硫丹的治疗方案耐受性良好，尽管这种调理方案的植入失败可能是一个重大问题。我们分享我们的单倍体移植经验，这将是文献中第一个报道的病例。
