用新标准对76例马方综合征的诊断再分析  

New Criteria and Diagnosis of Marfan Syndrome-An Analysis of 76 Cases

作　　者：谢进生[1] 孙衍庆[1] 周子凡[1] 刘愚勇[1] 侯晓彤[1] 郑斯宏[1] 

机构地区：[1]首都医科大学附属北京安贞医院心外科,北京市100029

出　　处：《中国循环杂志》2004年第1期59-61,共3页Chinese Circulation Journal

基　　金：北京市科技新星计划资助项目 (编号 95481 370 0)

摘　　要：目的 :由于马方综合征的临床处理与遗传咨询和其它疾病截然不同 ,因此应尽量避免滥诊和误诊。方法 :基于 1996年重新修订的新标准 ,对我院 1986年～ 1996年 76例诊断为“马方综合征”的手术患者 ,进行逐例分析其家族史和骨骼、眼及心血管等病变 ,最后作出诊断和排外。结果 :诊断准确率为 5 6 6% ( 4 3 / 76) ,误诊率 3 2 9% ( 2 5 / 76) ,病因不明占 10 5 % ( 8/ 76)。结论 :大血管手术病例中马方综合征的滥诊现象极为普遍 ,严格按照新标准在很大程度上可以避免不必要的假阳性诊断。Objective:Mindless diagnosis of Marfan syndrome should be avoided,because its clinical management and genetic consult ation are different from other diseases. Methods:Based on the newly revised criteria in 1996, data on 76 operated patients,who had been diagnosed as having Marfan syndrome in our hospital from 1986 to 1996,were analyzed with respect to their familial pedigrees, and skeletal,ocular and cardiovascular abnormalities in order to confirm or rule out the prerions diagnosis. Results:The previons accurate diagnostic rate was 56.6%(43/76),the false-positive rate was 32.9%(25/76),undear cause wasin 10.5%(8/76). Conclusion:Mindless Marfan syndrome was very popular in operated patients.Many false-positive diagnosis may be avoided if the new criteria is used in clinical practice.

关 键 词：马方综合征 诊断 遗传咨询 诊断标准 

分 类 号：R596[医药卫生—内科学]