Budd-Chiari综合征——两个家系调查  

A report of two Chinese familial Budd Chiari syndrome

作　　者：冯博[1] 徐克[1] 姜宏 付伟能[3] 李红[1] 郭敏[1] 刘小倩[1] 王志明[4] 

机构地区：[1]中国医科大学附属第一医院放射科,沈阳110001 [2]解放军第四六三医院放射科 [3]中国医科大学遗传学教研室 [4]锦州医学院附属第一医院放射科

出　　处：《中华血液学杂志》2000年第9期482-484,共3页Chinese Journal of Hematology

基　　金：国家"九五"攻关项目资助!(96 9070102)

摘　　要：目的　探讨A、B两个家系家族性Budd Chiari综合征 (BCS)相关病因。方法　对 4例BCS先证者及其家系成员进行血管造影、超声波检查、病因调查及因子ⅤLeiden(FⅤ∶Q50 6)突变分析。结果　 4例BCS先证者的诊断经血管造影证实。超声波检查AⅢ11,16诊断为BCS。A家系 10名成员有下肢静脉曲张。 6例BCS中 ,4例 (AⅢ7,11,15,BⅡ10 )FⅤLeiden突变阳性。两家系成员中 ,AⅡ2 、BⅢ5突变阳性 ,但未患BCS。系谱分析两家系FⅤLeiden突变符合孟德尔遗传规律 ,与BCS具有较高的吻合度。结论　FⅤLeiden突变是家族性BCS发病的危险因素之一。Objective To investigate the etiology of two Chinese familial Budd Chiari syndrome(BCS). Method Four patients with familial BCS (from A and B families),and the other 41 family members were detected by angiography, ultrasound Dopler, etiology analysis and Factor Ⅴ Leiden(FvL) mutation analysis. Result Four BCS patients were proved by angiography,2 by ultra sound Dopler in family A. Ten members in family A were varicosis in low extremeties. FvL mutation was detected in 4 of 6 patients and 2 normal family members. AⅡ 2, AⅢ 7,11,15 , BⅡ 10 and BⅢ 5 had FvL mutation. The FvL mutations were compatible with Mendel hereditary law. Conclusion FvL mutation may be one of main risk factors and varicosis in low extremeties may be another risk factors for familial BCS.

关 键 词：BUDD-CHIARI综合征 FVLeiden突变 聚合酶链反应 

分 类 号：R442.8[医药卫生—诊断学]