胱硫醚-β-合成酶基因变异致青年脑梗死合并多发动脉血栓一例  

Cerebral infarction complicated with multiple arterial thrombosis caused by cystathionine beta-synthase gene mutation in youth:a case report

作　　者：毛梅 陈岚[1] 曾宪春[2] 郑艳[1] 杨婷婷 李阳春 姚源蓉 Mao Mei;Chen Lan;Zeng Xianchun;Zheng Yan;Yang Tingting;Li Yangchun;Yao Yuanrong(Department of Neurology,Guizhou Provincial People′s Hospital,Guiyang 550002,China;Department of Radiology,Guizhou Provincial People′s Hospital,Guiyang 550002,China)

机构地区：[1]贵州省人民医院神经内科,贵阳550002 [2]贵州省人民医院放射科,贵阳550002

出　　处：《中华神经科杂志》2021年第9期952-956,共5页Chinese Journal of Neurology

基　　金：国家自然科学基金(81860245);黔科合平台人才项目([2017]5724-10,[2018]5764-08,[2019]5664)。

摘　　要：高同型半胱氨酸血症是青年脑梗死的独立危险因素。同型半胱氨酸代谢过程中关键酶的基因突变是高同型半胱氨酸血症的主要原因,胱硫醚-β-合成酶复合杂合变异致青年脑梗死,同时合并肺栓塞及下肢动脉血栓罕见报道。文中报道1例青年脑梗死患者,合并肺栓塞及下肢动脉血栓,病因筛查发现血同型半胱氨酸水平显著增高,基因检测胱硫醚-β-合成酶833T>C/1082C>T复合杂合变异,予叶酸、甲钴胺、维生素B6以及抗凝治疗后,患者血同型半胱氨酸水平逐渐下降,随访1年,未见新发血栓事件,复查同型半胱氨酸在正常范围。Hyperhomocysteinemia(HHcy)is one of the independent risk factors for youth cerebral infarction.Gene mutation of key enzymes in homocysteine metabolism is the main cause of HHcy.Few cases of cystathionine beta-synthase(CBS)compound heterozygous mutation complicated with pulmonary embolism and lower extremity artery embolism have been reported.This article reported a young cerebral infarction patient complicated with pulmonary embolism and lower extremity artery embolism,who was subsequently detected with significantly elevated blood Hcy,and finally etiologically diagnosed with CBS 833 T>C/1082C>T compound heterozygous mutation.With the treatment of folic acid,methyl cobalt amine,vitamin B6 and anticoagulant,the blood Hcy has been gradually declined,and no new thrombotic events occurred during the follow-up period of a year.

关 键 词：高同型半胱氨酸血症 胱硫醚-Β-合成酶 缺血性卒中 肺栓塞 

分 类 号：R743[医药卫生—神经病学与精神病学]