异基因造血干细胞移植联合骨髓间充质干细胞输注治疗Shwachman-Diamond综合征合并骨髓增生异常综合征1例并文献复习

Allogeneic hematopoietic stem cell transplantation with bone marrow derived mesenchymal stem cell co-infusion in Shwachman-Diamond syndrome with myelodysplastic syndrome:A case report and literature review

Shwachman-Diamond综合征(Shwachman-Diamond syndrome,SDS)是一种临床罕见的多系统累及的疾病,主要表现为骨髓衰竭、胰腺外分泌功能不全及骨骼发育异常,骨髓衰竭可为再生障碍性贫血、骨髓增生异常综合征,部分可进展为急性白血病,预后欠佳。文章报道1例外周血造血干细胞移植联合骨髓间充质干细胞输注治疗SDS合并骨髓增生异常综合征患者的诊疗经过。造血干细胞移植是治疗SDS并发造血系统疾病的有效手段,对于有造血系统并发症的患者应尽早进行造血干细胞移植,可改善疾病预后。

Shwachman-Diamond syndrome(SDS)is a rare,multi-systemic disorder with bone marrow failure,exocrine pancreatic insufficiency,and skeletal abnormalities.Bone marrow failure include severe aplastic anemia and myelodysplastic syndrome,some patients develop acute leukemia with poor prognosis.It reported a case of SDS with myelodysplastic syndrome successfully treated with allogeneic hematopoietic stem cell transplantation and bone marrow derived mesenchymal stem cell co-infusion.Allogeneic hematopoietic stem cell transplantation is a feasible and effective option for SDS patients with bone marrow failure.Early recognition of the disease and hematopoietic stem cell transplantation for SDS patients with bone marrow failure will improve survival.