范可尼贫血基因治疗研究进展

Advances in the gene therapy for Fanconi anemia

范可尼贫血是一种罕见的单基因缺陷疾病,以进行性骨髓造血功能衰竭为主要特征。异基因造血干细胞移植是范可尼贫血最主要的治疗方式,但是移植相关并发症的发病率和致死率较高,严重影响患儿的生活质量。近30年来,随着医学的进步与发展,基因治疗有望成为治愈儿童范可尼贫血的新型低毒性治疗方式。文章旨在综述儿童范可尼贫血基因治疗的研究进展。

Fanconi anemia is a rare monogenic disease with the hallmark of bone marrow failure. Although allogeneic hematopoietic stem cell transplantation constitutes the preferred therapy for bone marrow failure in Fanconi anemia patients,the increased incidence and mortality of transplant-related complications have seriously affected their quality of life. As medical science advances in recent 30 years, gene therapy may emerge as an innovative low-toxicity therapeutic option for this lifethreatening disorder. In this paper, attention is focused on the advances in gene therapy for Fanconi anemia in children.