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:观察血腑逐瘀胶囊对大鼠缺血心肌细胞Sirt1信号通路的干预作用,探讨该中药复方的作用机制。方法:将70只健康成年雌性Wistar大鼠随机分成正常组,假手术组(以蒸馏水10 m L·kg-1灌胃),模型组(以蒸馏水10 m L·kg-1灌胃),血...目的:观察血腑逐瘀胶囊对大鼠缺血心肌细胞Sirt1信号通路的干预作用,探讨该中药复方的作用机制。方法:将70只健康成年雌性Wistar大鼠随机分成正常组,假手术组(以蒸馏水10 m L·kg-1灌胃),模型组(以蒸馏水10 m L·kg-1灌胃),血腑逐瘀高、中、低剂量组(0.03,0.02,0.01 g·kg-1),L-NAME组(按2 mg/只腹腔注射),采用实时荧光定量PCR(Realtime PCR)技术检测各组心肌组织沉默信息调节因子1(Sirt1),p53及核转录因子-κB(NF-κB)mRNA表达情况。结果:与假手术组比较,模型组缺血心肌细胞Sirt1 mRNA表达水平明显降低(P<0.05),缺血心肌细胞p53,NF-κB mRNA表达水平增高(P<0.05);与模型组比较,血腑逐瘀高、中、低剂量组大鼠缺血心肌细胞Sirt1 mRNA表达水平明显增高(P<0.05),血腑逐瘀高剂量组大鼠缺血心肌细胞p53,NF-κB mRNA表达水平明显降低(P<0.05)。结论:血腑逐瘀胶囊可延长缺血心肌细胞寿命,其机制可能是通过激活Sirt1信号通路,抑制p53,NF-κB基因的表达而发挥作用。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.
