目的 探讨单倍体亲缘异基因造血干细胞移植治疗重型再生障碍性贫血(SAA)的可行性。方法 对1例诊断SAA 4年余,先后经CsA治疗、脐血移植治疗均无效并反复输注红细胞、血小板的12岁男性患者进行单倍体亲缘异基因造血干细胞移植,供者为其胞兄,高分辨HLA基因型5/10相合,预处理方案为BU+CTX+ATG:BU 3.2 mg/kg×2 d,CTX 50 mg/kg×4 d,ATG 2.5 mg/kg×4 d。干细胞来源为G-CSF动员的骨髓+外周造血干细胞,共计输注单个核细胞(MNC)4.055×10⁸/kg(受者体重),CD 34 2.331×10⁶/kg。GVHD预防:-1 d采用与受者HLA部分相合的第三方脐带血细胞,术后联合应用环孢素A、短程氨甲碟呤、霉酚酸酯。结果 造血缓慢重建,术后22天(+22 d)ANC>0.5×10⁹/L,术后3月血小板脱离输注。+26天DNA指纹图全部表现为供者基因型。+40天血型转为供者型“O”型。+29 d出现急性移植物抗宿主病aGVHD(胃肠型,Ⅲ度),+31 d、+34 d及+42 d予巴利昔单抗20 mg静滴,+40 d、+44 d、+63 d输注间充质干细胞,患者急性GVHD逐渐控制。期间曾出现肺部感染、口腔黏膜炎及巨细胞病毒血症,经抗感染后可控制。现随访3年,血象正常稳定,Kamofsky评分100分。结论 单倍体亲缘异基因造血干细胞移植治疗SAA,对无相合供者(包括亲缘或非亲缘)且强效免疫抑制治疗失败的患者,可考虑进行,GVHD和感染为主要并发症,需根据患者病情采用相应措施。

Objective To investigate the feasibility of haploid genetic allogeneic hematopoietic stem cell transplantation in the treatment of severe aplastic anemia(SAA) in our hospital. Methods A 12-year-old patient with acquired SAA for 4 years showed no response to CsA and cord blood transplant treatment and was transfusion-dependent. Lacking an HLA-identical sibling donor, the patient was treated with HSCT from his brother 5/10 matched at the generic level. Theconditioning regimen was BU+CTX+ATG:BU 3.2 mg/kg×2 d,CTX 50 mg/kg×4 d,ATG 2.5 mg/kg×4 d. Stem cells were the source of G-CSF mobilization of bone marrow and peripheral blood stem cells, dose of stem cells infused: mononuclear cells (MNC) 4.055×10⁸/kg (body weight of subject), CD34 2.331×10⁶/kg. Prevention of GVHD: -1 d Third-party umbilical cord blood cells which were HLA partially matched were used. Postoperative joint use included cyclosporine A, short-course methotrexate, mycophenolate mofetil. Results Hematopoiesis was slowly rebuilding, 22 d after surgery (+22 d) ANC> 0.5×10⁹/L, after three months departing from transfusion of platelets. +26 d suggesting that the DNA fingerprints showed donor genotypes. +40 d into donor blood type “O” type. + 29 d occurred acute GVHD (GI type, Ⅲ degrees), + 31 d, + 34 d + 42 d infusion of basiliximab 20mg, + 40 d, + 44 d, + 63 d infusion of mesenchymal stem cells. Gradually acute GVHD was controlled in the patient, who had lung infections, oral mucositis and cytomegalovirus viremia, could be controlled with anti-infective. Now followed up for 3 years, hemogram change has been normal and stable. Kamofsky score was 100 points. Conclusion It may be considered to have haploid genetic allogeneic hematopoietic stem cell transplantation for treatment of SAA, for those patients who have non-matched donor (including relatives and non-relatives) and potent immunosuppressive therapy failure. GVHD and infection are major complications. Need to adopt appropriate measures in accordance with the patient's condition.

       目的   探讨淋巴细胞亚群在鉴别低增生性骨髓增生异常综合征（hypo-MDS）和再生障碍性贫血（AA）中的价值。方法   选取2020年7月—2023年6月在平顶山市第一人民医院治疗的80例hypo-MDS或和AA患者进行回顾性分析，其中hypo-MDS 48例、AA 32例，分析两组患者各类淋巴细胞（CD3⁺ 、CD4⁺ 、CD8⁺ 、CD4⁺ /CD8⁺ 、CD3⁺ CD57⁺ T-大颗粒淋巴细胞、CD3^- CD16/CD56⁺ 自然杀伤细胞、CD19⁺ B淋巴细胞）的差异。结果   hypo-MDS组的CD3⁺ （78.42±8.02）%与AA组的（75.65±8.44）%对比差异无统计学意义（P＞0.05）；hypo-MDS组的CD4⁺ （47.54±6.88）%、CD4⁺ /CD8⁺（2.16±0.61）%高于AA组的CD4⁺ （40.11±5.71）%、CD4⁺ /CD8⁺ （1.49±0.48）%，CD8⁺ （23.12±6.42）%低于AA组CD8⁺ （31.77±6.79）%（P＜0.05）；hypo-MDS患者CD3⁺ CD57⁺ T-大颗粒淋巴细胞（13.45±3.77）%、CD3^- CD16/CD56⁺自然杀伤细胞（12.32±3.97）%高于AA组CD3⁺ CD57⁺ T-大颗粒淋巴细胞（9.77±2.15）%、CD3^- CD16/CD56⁺ 自然杀伤细胞（8.84±2.11）%，CD19⁺ B淋巴细胞（9.75±2.08）%低于AA组（12.65±3.35）%（P＜0.05）。结论   淋巴亚群变化情况可用于AA和hypo-MDS的鉴别诊断。

       Objective  To explore the value of lymphocyte subsets in differentiation between hypoplastic myelodysplastic syndrome（hypo MDS）and aplastic anemia（AA）．Methods  A  retrospective analysis was conducted on 80 patients with hypo MDS and AA who underwent treatment in the First People’s Hospital of Pingdingshan City from July 2020 to June 2023．Among them，there were 48 cases of hypo MDS and 32 cases of AA．The differences in lymphocytes（CD3⁺ ，CD4⁺ ，CD8⁺ ，CD4⁺ /CD8⁺ ，CD3⁺ CD57⁺  T-large granular lymphocytes，CD3^- CD16/CD56⁺  natural killer cells，and CD19⁺  B lymphocytes）between the two groups of patients were analyzed．Results  There was no statistically significant difference in CD3⁺ （78.42±8.02）% between the hypo MDS group and the AA group（75.65±8.44）%（P＞0.05）．The CD4⁺ （47.54±6.88）% and CD4⁺ /CD8⁺ （2.16±0.61）% in the hypo MDS group were higher than those in the AA group（40.11±5.71）% and （1.49±0.48）%，respectively．The CD8⁺（23.12±6.42）% was lower than that in the AA group（31.77±6.79）%（P＜0.05）．The levels of CD3⁺ CD57⁺  T-large granular lymphocytes（13.45±3.77）% and CD3^- CD16/CD56⁺  natural killer cells（12.32±3.97）% in hypo MDS patients were higher than those in the AA group（［9.77±2.15］%，［8.84±2.11］%），and CD19⁺  B lymphoid cells（9.75±2.08）% were lower than that in the AA group（［12.65±3.35］%，P＜0.05）．Conclusions  The changes in lymphatic subpopulations can be used for the differential diagnosis of AA or hypo MDS．