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造血干细胞移植治疗儿童慢性肉芽肿病进展
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Abstract:
慢性肉芽肿病是一种原发性免疫缺陷病。由于gp91phox、p22phox、p47phox、p67phox、p40phox、GTP酶-RAC相关基因突变，导致吞噬细胞内NADPH氧化酶复合物缺陷。CGD临床表现特异性不高，主要为反复细菌、真菌感染、自身炎症性疾病、肉芽肿形成。NBT及DHR实验、基因诊断可以确诊CGD。传统的预防性使用抗生素、抗真菌药物、IFN-γ预防感染等治疗进展显著地改善了CGD患者的生存。包括IL-1β受体拮抗剂、PPAR-γ等药物治疗自身炎症疾病的实验也在进行中。造血干细胞移植为目前治愈CGD的主要方法。近十年因为预处理方案、供者选择、移植后护理等方面的改善，移植治疗的生存率显著提高，OS可以达到84%~93%，半相合供者等可能成为合适的供者选择。基因治疗中载体的改善、新的基因编辑技术能够在保证治疗效果的同时降低致基因突变的风险。
Chronic granulomatous disease is a primary immunodeficiency. The deficiency of NADPH oxidase complex in phagocytes was caused by mutations in genes of gp91phox, p22phox, p47phox, p67phox, p40phox and RAC. The clinical manifestations of CGD are not specific, mainly including repeated bacterial and fungal infections, autoimmune inflammatory disease, and granuloma formation. Diagnosis can be confirmed by NBT, DHR test, and gene mutation analysis. Conventional prophylactic antibiotic and anti-fungal therapy, and IFN-γ improve the survival significantly. Clinical trials of drugs such as IL-1β antagonists, PPAR-γ to treat inflammatory complications are being conducted. Hematopoietic Stem Cell Transplantation is the major treatment to cure CGD. In the last decades, survival was improved significantly with optimized conditioning regimens, selection of donors and post-care, with OS reaching 84%~93%. Haplo-identical donors can be considered as candidates. Advances in the vector design and gene-editing technology can reduce the risk of gene mutation while ensuring efficacy.
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