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骨髓衰竭性疾病是一组以造血功能不良为主的疾病,其临床表现复杂多样,包括先天性和获得性二大类。典型的临床症状和畸形体征见于部分遗传性骨髓衰竭综合征(IBMFS),其诊断需要结合实验室检查及特异的基因突变测定。先天性和获得性骨髓衰竭的治疗方法差异较大,免疫抑制治疗是获得性再生障碍性贫血(AA)的主要治疗方法之一,而对IBMFS无效。造血干细胞移植是治疗IBMFS和获得性AA的有效方法。IBMFS对药物耐受较差,移植前预处理方案应减弱。现对先天性和获得性二大类骨髓衰竭性疾病综述如下。
Bone marrow failure is a group of hematopoietic dysfunction-based diseases, the clinical manifestations of complex and diverse, including two major categories of congenital and acquired. Typical clinical symptoms and deformities are found in part of the hereditary bone marrow failure syndrome (IBMFS), the diagnosis of which requires a combination of laboratory tests and specific gene mutations. Treatment of congenital and acquired bone marrow failure varies widely, and immunosuppressive therapy is one of the primary treatments for acquired aplastic anemia (AA), but not for IBMFS. Hematopoietic stem cell transplantation is an effective method for the treatment of IBMFS and acquired AA. IBMFS drug tolerance is poor, pre-transplant program should be weakened. Now congenital and acquired two categories of bone marrow failure disease are summarized below.