在晚期骨髓增生异常综合征进展之前，成功进行了低强度干细胞移植治疗GATA2缺乏症。
Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS.
作者信息
Saida Satoshi, Umeda Katsutsugu, Yasumi Takahiro, Matsumoto Akane, Kato Itaru, Hiramatsu Hidefumi, Ohara Osamu, Heike Toshio, Adachi Souichi
机构信息
Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu, Japan.
出版信息
Pediatr Transplant. 2016 Mar;20(2):333-6. doi: 10.1111/petr.12667. Epub 2016 Jan 8.
A 13-yr-old boy bearing lymphedema and congenital deafness had distinct hematological abnormalities consisting of reduced monocytes, B cells, and dendritic cells in the peripheral blood as well as MDS with normal karyotype in the bone marrow. The patient was diagnosed with Emberger syndrome by sequencing of GATA2 DNA, and underwent RIST from an HLA-matched unrelated donor. Prompt engraftment and immunological reconstitution were observed without any severe RRT. As most patients with GATA2 anomaly died due to the development of AML or active infections, RIST could be a promising treatment option before progression of advanced MDS.
一名患有淋巴水肿和先天性耳聋的13岁男孩有明显的血液学异常，包括外周血中单核细胞、B细胞和树突状细胞减少，以及骨髓中核型正常的骨髓增生异常综合征。通过对GATA2 DNA进行测序，该患者被诊断为恩伯格综合征，并接受了来自HLA匹配的无关供体的亲缘性无关供者造血干细胞移植。观察到迅速植入和免疫重建，且无任何严重的移植物抗宿主病。由于大多数GATA2异常患者死于急性髓系白血病的发展或活动性感染，在晚期骨髓增生异常综合征进展之前，亲缘性无关供者造血干细胞移植可能是一种有前景的治疗选择。
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