Dalle J-H
Pediatric Immuno-Hematology Unit, Robert Debré Hospital, Paris, France.
Bone Marrow Transplant. 2008 Oct;42 Suppl 2:S51-3. doi: 10.1038/bmt.2008.284.
Fanconi anemia (FA) is a rare autosomal recessive disease characterized by congenital abnormalities, cancer predisposition and progressive BM failure. FA patients present spontaneous and induced chromosome breakage. Hematopoietic SCT (HSCT) represents the unique therapeutic option to restore normal hematopoiesis when marrow failure or clonal hematopoietic abnormality occurs. Conventional myeloablative conditioning regimen, especially including a high dose of irradiation, appeared strongly toxic for FA patients. Then, reduced-intensity conditioning regimens were developed successfully for those patients. However, TRM still remained higher than for other HSCT indications. The development of fludarabine containing a non-myeloablative conditioning regimen appears to be a major progress. Long-term follow-up is absolutely necessary.
范可尼贫血（FA）是一种罕见的常染色体隐性疾病，其特征为先天性异常、癌症易感性和进行性骨髓衰竭。FA患者存在自发和诱导性染色体断裂。造血干细胞移植（HSCT）是骨髓衰竭或克隆性造血异常发生时恢复正常造血的唯一治疗选择。传统的清髓性预处理方案，尤其是包括高剂量照射的方案，对FA患者毒性很强。然后，成功为这些患者开发了减低强度的预处理方案。然而，移植相关死亡率（TRM）仍然高于其他HSCT适应症。含氟达拉滨的非清髓性预处理方案的开发似乎是一个重大进展。长期随访绝对必要。
