中文摘要：

目的初步探讨范可尼贫血（FA）基因突变与临床转归的关系。方法回顾性分析临床严重程度及治疗均相同的6例FA患者的临床资料,均采用单细胞凝胶电泳及丝裂霉素C（MMC）诱导的染色体断裂试验进行诊断,并采用先天性骨髓衰竭性疾病的基因检测试剂盒或互补实验进行基因分型,最后综合分析FA患者治疗3、6、9、12个月的临床转归与基因突变的关系。结果 6例FA患者中,5例为FANCA型、1例为FANCM型,4例患者携带2种及以上FA基因突变。临床严重程度相同的FA患者中,携带FA突变基因较多的患者发病年龄较小,对药物反应较差,更易发展为重型。结论同时携带两种以上FA突变基因的患者临床预后较差,应尽早进行造血干细胞移植。

英文摘要：

Objective To investigate the association between clinical outcome and gene mutations in children with Fanconi anemia（FA）.Methods A retrospective analysis was performed for the clinical data of six children with the same severity of FA and receiving the same treatment.At first,single cell gel electrophoresis and chromosome breakage induced by mitomycin C were performed for diagnosis.Then the gene detection kit for congenital bone marrow failure diseases or complementation test was used for genotyping of FA.Finally the association between the clinical outcome at 3,6,9,or 12 months after treatment and gene mutation was analyzed.Results Of all the six FA children,five had FANCA type disease,and one had FANCM type disease;four children carried two or more FA gene mutations.Among the children with the same severity of FA,those with more FA mutations had a younger age of onset and poorer response to medication,and tended to progress to a severe type.Conclusions Children carrying more than two FA mutations have a poor clinical outcome,and hematopoietic stem cell transplantation should be performed as soon as possible.