Abstract:

Objective　To analyze the clinical characteristics of children with Fanconi anemia（FA） and their responses to different drug treatments，and to study the clinical outcomes of different drug treatments. Methods　A total of 43 children with definite diagnosis of FA in Institute of Hematology and Blood Diseases Hospital，Chinese Academy of Medical Sciences & Peking Union Medical College（From October 2003 to December 2014） were included. Fisher’s exact test was used to analyze the potential difference of different treatments. Results　Of 43 cases，the median age of onset was 5 years（50 days to 14 years），and there were 23 male cases（53.5%） and 20 female cases（46.5%）. The male to female ratio was 1.15∶1. There were 30 cases（69.8%） of malformation，and the incidence of hand deformity was the highest（34.3%）. No family history was observed in 27 cases（62.8%）. The most common first symptoms were anemia and thrombocytopenia. The authors further analyzed the efficacy of cases with the follow-up time≥6 months，and found that there was significant efficacy difference between the androgen +/-glucocorticoid/rabbit anti-human thymocyte immunoglobulin（ATG）+cyclosporin A group and androgen group as well as androgen+glucocorticoid groups（P＜0.05）. Conclusion　The incidence of malformations in children with FA is inconsistent with some other international reports. The deformity or family history does not exist in all children with FA. The poor clinical prognosis and progression of FA are associated with the treatment of cyclosporin A.

Key words: Fanconi anemia, clinical manifestation, treatment, clinical outcome

摘要：

目的    分析范可尼贫血（Fanconi anemia，FA）患儿的临床特征及对不同药物的治疗反应，探讨不同药物治疗的临床转归差别。方法　2003年10月至2014年12月就诊于中国医学科学院血液病医院血液学研究所，明确诊断为FA的患儿43例。利用Fisher确切概率法对各治疗方法进行统计学分析，探讨不同治疗方法间是否存在差别。结果　43例患儿发病中位年龄5岁（50 d至14岁）；其中，男23例（53.5%），女20例（46.5%），男女比例为1.15∶1。畸形30例（69.8%），其中手部畸形发生率最高（34.3%）。无家族史患儿27例（62.8%）。以贫血、血小板减少为首发症状者最常见。分析随访时间≥ 6个月患儿的疗效，结果显示，雄激素+/-糖皮质激素/兔抗人胸腺细胞免疫球蛋白（ATG）+环孢菌素A组与雄激素组、雄激素+糖皮质激素组间疗效差异有统计学意义（P＜0.05）。
结论　FA患儿中并非均有畸形或家族史。FA患儿经环孢菌素A治疗后临床预后差、疾病易进展。

关键词: 范可尼贫血, 临床表现, 治疗, 临床转归