同胞兄妹共患Budd-Chiari综合征的家系调查

A REPORT OF FULL SISTER AND BROTHER BUDD-CHIARI SYNDROME

目的 :探讨家族性Budd -Chiari综合征 (BCS)相关病因。方法 :对同胞兄妹先证者及其家族三代共 2 6人进行病因调查、超声波检查、血管造影、肝功能检查。结果 :2例先证者均由超声波检查发现异常 ,由血造影证实 ,由经皮腔内血管成形术 (PTA)治愈。 1例发现右侧髂动脉瘤 ,右髂动脉狭窄 (血栓形成 )。 1例右肝静脉轻度狭窄。 1例患胃下垂。 1例怀疑地中海贫血 ,至今尚未确诊。其他成员未见异常。结论 :家族性BCS可能与遗传缺陷有关 ,但未发现下肢静脉曲张患者。

Objective:To investigate the etiology of the Budd-Chiari Syndrome (BCS).Methods:26 patients of full sister and brother probands and three generations of the family were detected by etiology analysis,ultrasound Dopler,angiography and liver function test.Results:2 cases of probands were found to be abnormal by ultrasound Dopler and proved by angiography,and were later cured by PTA.6 patients were detected to be with right-sided iliac artery tumor and stenosis of right-sided iliac artery (thrombosis) 1 patient with slight phlebostenosis of right-sided liver.1 patient with gastroptosis.1 patients suspected to be with Mediterranean anemia and has not been proved yet.No abnormality was detected with other family members.Conclusions:Family BCS may be related to the hereditary defects,but no patients of varix of lower limb were found.PTA has been proved to be a good method in the treatment of BCS.