BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HS...BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HSCT),and can alleviate anemia in the majority of cases.Nevertheless,some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT.Novel management approaches is necessary to be developed.To explore the response of luspatercept in treating congenital sideroblastic anemia.CASE SUMMARY We share our experience in luspatercept in a 4-year-old male patient with CSA.Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk,three consecutive doses,evaluating the hematological response.Luspatercept leading to a significant improvement in the patient's anemia.The median hemoglobin during the overall treatment with three doses of luspatercept was 90(75-101)g/L,the median absolute reticulocyte count was 0.0593(0.0277-0.1030)×10^(12)/L,the median serum ferritin was 304.3(234.4-399)ng/mL,and the median lifespan of mature red blood cells was 80(57-92)days.Notably,no adverse reactions,such as headaches,dizziness,vomiting,joint pain,or back pain,were observed during the treatment period.CONCLUSION We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.展开更多
目的分析罗特西普治疗骨髓增生异常综合征(MDS)患者贫血的有效性与安全性,为临床用药提供参考。方法计算机检索数据库PubMed、Cochrane Library、Embase、Web of Science中有关罗特西普治疗MDS患者贫血的文献,检索时限均为建库起至2024...目的分析罗特西普治疗骨髓增生异常综合征(MDS)患者贫血的有效性与安全性,为临床用药提供参考。方法计算机检索数据库PubMed、Cochrane Library、Embase、Web of Science中有关罗特西普治疗MDS患者贫血的文献,检索时限均为建库起至2024年1月。根据纳入与排除标准筛选文献后对其进行质量评价,采用RevMan 5.4软件进行单组率Meta分析与敏感性分析,并进行亚组分析。结果本研究纳入9篇文献,共756例患者。Meta分析结果显示,使用罗特西普后,实现脱离红细胞输注≥8周的MDS患者比例为46%[95%CI(0.28,0.64),P<0.00001],实现血液学改善-红系的患者比例为59%[95%CI(0.43,0.74),P<0.00001]。其中5篇文献报道了发生3~4级不良事件的MDS患者比例为14%[95%CI(0.07,0.22),P=0.0002],一般情况不良、感染、血液及淋巴系统疾病是常见的不良事件。亚组分析结果显示,输血负担为实现脱离红细胞输注≥8周的患者比例的异质性来源,修订版国际预后评分系统(IPSS-R)分级、SF3B1基因突变和输血负担为实现血液学改善-红系的患者比例的异质性来源。敏感性分析结果显示,本研究结果稳定。结论罗特西普可显著改善MDS患者的输血依赖性,减轻输血负担,促进血液学改善;但应警惕其3~4级不良事件的发生,其中一般情况不良、感染、血液和淋巴系统疾病等较为常见。展开更多
目的:观察新型促红细胞成熟剂罗特西普治疗骨髓增生异常综合征伴环形铁粒幼细胞(myelodysplastic syndrome with ring sideroblast, MDS-RS)难治性贫血患者的临床疗效及安全性。方法:纳入2022年8月至2023年12月上海交通大学医学院附属...目的:观察新型促红细胞成熟剂罗特西普治疗骨髓增生异常综合征伴环形铁粒幼细胞(myelodysplastic syndrome with ring sideroblast, MDS-RS)难治性贫血患者的临床疗效及安全性。方法:纳入2022年8月至2023年12月上海交通大学医学院附属第六人民医院血液科连续收治接受罗特西普治疗的MDSRS贫血患者,根据WHO2016标准诊断为MDS-RS,并符合国际预后评分系统修订版(revised International Prognostic Scoring System, IPSS-R)预后分组的非常低危、低危或中等风险组。罗特西普按照说明书方案给药,并限定治疗前后维持一致的输血策略。收集患者每个治疗周期的血液学数据和红细胞输血次数,并根据修订后的国际工作组(International Working Group, IWG)2018年标准评估血液学改善(hematopoietic improvement, HI)。结果:共纳入9例患者,达到HI者7例,其中5例获得红系HI(hematopoietic improvement-erythroid, HI-E),2例获得红细胞输注不依赖(red blood cell transfusion independence, TI-RBC)≥8周。HI的中位缓解持续时间为17(9~46)周。7例HI患者中5例在用药过程中失效,中位首次失效时间为15(9~23)周。研究期间受新型冠状病毒疫情影响,5例患者共发生6例次感染。6例共发生11例次延迟用药,均导致血红蛋白减少[平均下降(18±6)g/L]或需红细胞输注,直接触发5次剂量爬坡和2例次疗效丧失。3例报告骨痛,1例骨髓纤维化进展至3级。结论:本研究证实罗特西普在真实世界中对MDS-RS难治性贫血患者有效,但基线输血负担及延迟用药影响疗效,其疗效依赖于连续和定期给药。展开更多
基金National Natural Science Foundation of China,No.81890992.
文摘BACKGROUND Congenital sideroblastic anemia(CSA)is a rare and heterogeneous group of genetic disorders.Conventional treatment include pyridoxine(vitamin B6)and allogeneic hematopoietic stem cell transplantation(allo-HSCT),and can alleviate anemia in the majority of cases.Nevertheless,some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT.Novel management approaches is necessary to be developed.To explore the response of luspatercept in treating congenital sideroblastic anemia.CASE SUMMARY We share our experience in luspatercept in a 4-year-old male patient with CSA.Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk,three consecutive doses,evaluating the hematological response.Luspatercept leading to a significant improvement in the patient's anemia.The median hemoglobin during the overall treatment with three doses of luspatercept was 90(75-101)g/L,the median absolute reticulocyte count was 0.0593(0.0277-0.1030)×10^(12)/L,the median serum ferritin was 304.3(234.4-399)ng/mL,and the median lifespan of mature red blood cells was 80(57-92)days.Notably,no adverse reactions,such as headaches,dizziness,vomiting,joint pain,or back pain,were observed during the treatment period.CONCLUSION We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.
文摘目的分析罗特西普治疗骨髓增生异常综合征(MDS)患者贫血的有效性与安全性,为临床用药提供参考。方法计算机检索数据库PubMed、Cochrane Library、Embase、Web of Science中有关罗特西普治疗MDS患者贫血的文献,检索时限均为建库起至2024年1月。根据纳入与排除标准筛选文献后对其进行质量评价,采用RevMan 5.4软件进行单组率Meta分析与敏感性分析,并进行亚组分析。结果本研究纳入9篇文献,共756例患者。Meta分析结果显示,使用罗特西普后,实现脱离红细胞输注≥8周的MDS患者比例为46%[95%CI(0.28,0.64),P<0.00001],实现血液学改善-红系的患者比例为59%[95%CI(0.43,0.74),P<0.00001]。其中5篇文献报道了发生3~4级不良事件的MDS患者比例为14%[95%CI(0.07,0.22),P=0.0002],一般情况不良、感染、血液及淋巴系统疾病是常见的不良事件。亚组分析结果显示,输血负担为实现脱离红细胞输注≥8周的患者比例的异质性来源,修订版国际预后评分系统(IPSS-R)分级、SF3B1基因突变和输血负担为实现血液学改善-红系的患者比例的异质性来源。敏感性分析结果显示,本研究结果稳定。结论罗特西普可显著改善MDS患者的输血依赖性,减轻输血负担,促进血液学改善;但应警惕其3~4级不良事件的发生,其中一般情况不良、感染、血液和淋巴系统疾病等较为常见。
