中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
1期
84-86
,共3页
李玉龙%刘禄社%翟亚萍%程薇%张鲁芳%张茵
李玉龍%劉祿社%翟亞萍%程薇%張魯芳%張茵
리옥룡%류록사%적아평%정미%장로방%장인
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
再生障礙性貧血%細胞遺傳學異常%8號染色體三體%7號染色體單體
재생장애성빈혈%세포유전학이상%8호염색체삼체%7호염색체단체
Aplastic anemia%Cytogenetic abnormalities%Trisomy 8%Monosomy 7
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冉障患者,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(50 vs.58,P=0.337)、性别比例(男55.56％vs.62.10％,女44.44％ vs.37.90％,P=0.762)、急性再障所占比例(44.44％vs.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-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有其它异常者.
目的 探討初診時伴有細胞遺傳學異常的再生障礙性貧血(再障)患者相對于遺傳學正常患者在臨床特徵及治療反應方麵的差異.方法 迴顧分析133例成功進行細胞遺傳學分析的冉障患者,比較有或無遺傳學異常的兩組患者的臨床特徵及其對于環孢素聯閤十一痠睪汍酮的治療反應的差異.結果 133例再障患者中9例具有細胞遺傳學異常,佔6.77％,其中8號染色體三體(+8)4例,7號單體(-7)2例,X、1號、7號染色體長臂缺失(Xq-、1q-、7q-)各1例.有細胞遺傳學異常與無異常組相比,其年齡(50 vs.58,P=0.337)、性彆比例(男55.56％vs.62.10％,女44.44％ vs.37.90％,P=0.762)、急性再障所佔比例(44.44％vs.37.10％,P=0.728)均無明顯差異.前者治療有效率低于後者,但差異無統計學意義(55.56％vs.79.03％,P=0.116).4例+8患者治療有效,而-7、7q-患者治療均無效.結論 具有遺傳學異常的再障患者的臨床特徵及治療反應與無異常患者差異不明顯.具有+8的患者療效似乎好于具有其它異常者.
목적 탐토초진시반유세포유전학이상적재생장애성빈혈(재장)환자상대우유전학정상환자재림상특정급치료반응방면적차이.방법 회고분석133례성공진행세포유전학분석적염장환자,비교유혹무유전학이상적량조환자적림상특정급기대우배포소연합십일산고환동적치료반응적차이.결과 133례재장환자중9례구유세포유전학이상,점6.77％,기중8호염색체삼체(+8)4례,7호단체(-7)2례,X、1호、7호염색체장비결실(Xq-、1q-、7q-)각1례.유세포유전학이상여무이상조상비,기년령(50 vs.58,P=0.337)、성별비례(남55.56％vs.62.10％,녀44.44％ vs.37.90％,P=0.762)、급성재장소점비례(44.44％vs.37.10％,P=0.728)균무명현차이.전자치료유효솔저우후자,단차이무통계학의의(55.56％vs.79.03％,P=0.116).4례+8환자치료유효,이-7、7q-환자치료균무효.결론 구유유전학이상적재장환자적림상특정급치료반응여무이상환자차이불명현.구유+8적환자료효사호호우구유기타이상자.
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),1q-(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 the4 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.
