伴有细胞遗传学异常的再生障碍性贫血患者的临床特征及疗效分析  

Clinical features and therapeutic response of aplastic anemia patients with or without cytogenetic abnormalities

作　　者：李玉龙[1] 刘禄社[1] 翟亚萍[1] 程薇[1] 张鲁芳[1] 张茵[1] 

机构地区：[1]河南省人民医院血液病研究所,郑州450003

出　　处：《中华医学遗传学杂志》2013年第1期84-86,共3页Chinese Journal of Medical Genetics

摘　　要：目的探讨初诊时伴有细胞遗传学异常的再生障碍性贫血（再障）患者相对于遗传学正常患者在I临床特征及治疗反应方面的差异。方法回顾分析133例成功进行细胞遗传学分析的再障患者，比较有或无遗传学异常的两组患者的临床特征及其对于环孢素联合十一酸睾丸酮的治疗反应的差异。结果133例再障患者中9例具有细胞遗传学异常，占6．77％，其中8号染色体三体（＋8）4例，7号单体（-7）2例，x、1号、7号染色体长臂缺失（Xq-、1q-、7q-）各1例。有细胞遗传学异常与无异常组相比，其年龄（50us．58，P=0．337）、性别比例（男55．56％YJS．62．10％，女44．44％us．37．90％，P=0．762）、急性再障所占比例（44．44％弧37．10％，P=0．728）均无明显差异。前者治疗有效率低于后者，但差异无统计学意义（55．56％VS．79．03％，P=0．116）。4例＋8患者治疗有效，而7、7q一患者治疗均无效。结论具有遗传学异常的再障患者的临床特征及治疗反应与无异常患者差异不明显。具有＋8的患者疗效似乎好于具右茸官异常者。Objective To compare clinical features and therapeutic response of patients with aplastic anemia with and without cytogenetic abnormalities. Methods Clinical features of 133 patients with successful chromosomal analysis were retrospectively studied, and therapeutic response between patients with and without cytogenetic abnormalities was compared. Results Cytogenetic abnormalities were found in 9 patients, which included trisomy 8 （4 cases）, monosomy 7 （2 cases） and Xq-- （1 case）, lq-- （1 case） and 7q-- （1 case）. No significant difference was detected between patients with or without cytogenetic abnormalities in terms of age （50 vs. 58, P=0. 337）, sex ratio （male 55. 56% vs. 62. 10%, female 44.44% vs. 37.90%, P=0.762）, or episode of acute aplastic anemia （44.44% vs. 37.10%, P=0.728）. Patients with cytogenetic abnormalities had a tendency towards poorer rate of therapeutic response, which was however not significantly different from those without （55.56% vs. 79.03%, P=0. 116）. All of the 4 patients with ＋ 8 responded to treatment, whilst none of those with -7 or 7q- did. Conclusion No significant difference was found between aplastic anemia patients with or without cytogenetic abnormalities in terms of clinical features and theraputic response. Patients with trisomy 8 seem to have a favorable response towards treatment.

关 键 词：再生障碍性贫血 细胞遗传学异常 8号染色体三体 7号染色体单体 

分 类 号：R556.5[医药卫生—血液循环系统疾病]