Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Department of Hematology and Oncology, Beijing Children's Hospital, Capital Medical University, Nanlishi Road No. 56, Xicheng District, Beijing, 100045, China.
Orphanet J Rare Dis. 2021 Jul 15;16(1):314. doi: 10.1186/s13023-021-01955-6.
To evaluate the clinical efficacy of haploidentical haematopoietic stem cell transplantation (haplo-HSCT) for the treatment of malignant infantile osteopetrosis (MIOP) and intermediate osteopetrosis.
Children with MIOP and IOP who underwent haplo-HSCT in Beijing Children's Hospital, Capital Medical University, from January 2010 to May 2018 were retrospectively analysed. Data relating to the clinical manifestations, engraftment, and prognosis of the children were extracted from medical records.
Twenty-seven patients, including 18 males and 9 females, with an onset age of 12 (0.04-72) months were enrolled in this study. The median time from diagnosis to transplantation was 4 (1-23) months. All patients received haplo-HSCT with a myeloablative conditioning regimen (including fludarabine, busulfan, and cyclophosphamide). Graft versus host disease (GVHD) prophylaxis was based on anti-human T lymphocyte porcine immunoglobulin/anti-human thymus globulin, methotrexate, and mycophenolate mofetil. The median observation time was 55.2 (0.3-126.2) months. By the end of follow-up, twenty patients survived and seven patients died. The 5 year overall survival rate was 73.9%. Stage I-II acute GVHD was observed in 20 patients, stage III GVHD in 1 patient and no patients had stage IV disease. Chronic GVHD was observed in 11 patients (40.7%) and was controlled by anti-GVHD therapy.
Haplo-HSCT was an effective treatment for MIOP and IOP, with a high survival rate and significantly improved clinical symptoms. For patients with a vision impairment before HSCT, the improvement was slow after transplantation. The incidence of GVHD was high but mild and was effectively controlled by appropriate treatment. These data indicated that haplo-HSCT was a feasible treatment for MIOP and IOP.
评估单倍体造血干细胞移植（haplo-HSCT）治疗婴儿恶性骨硬化症（MIOP）和中间型骨硬化症的临床疗效。
回顾性分析 2010 年 1 月至 2018 年 5 月期间首都医科大学附属北京儿童医院接受 haplo-HSCT 的 MIOP 和 IOP 患儿的临床资料，分析其临床表现、植入情况和预后。
本研究共纳入 27 例患儿，其中男 18 例，女 9 例，发病年龄 12（0.04-72）个月。从诊断到移植的中位时间为 4（1-23）个月。所有患者均接受含氟达拉滨、白消安和环磷酰胺的清髓性预处理方案行 haplo-HSCT。移植物抗宿主病（GVHD）预防方案为抗人 T 淋巴细胞猪免疫球蛋白/抗人胸腺球蛋白、甲氨蝶呤和霉酚酸酯。中位随访时间为 55.2（0.3-126.2）个月。随访结束时，20 例患儿存活，7 例死亡。5 年总生存率为 73.9%。20 例患儿发生Ⅰ-Ⅱ度急性 GVHD，1 例患儿发生 Ⅲ度 GVHD，无 4 度 GVHD。11 例（40.7%）患儿发生慢性 GVHD，经抗 GVHD 治疗后得到控制。
haplo-HSCT 是治疗 MIOP 和 IOP 的有效方法，生存率高，临床症状明显改善。对于移植前视力受损的患者，移植后改善较慢。GVHD 发生率较高，但程度较轻，经适当治疗可有效控制。这些数据表明 haplo-HSCT 是 MIOP 和 IOP 的一种可行治疗方法。
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