国际神经病学神经外科学杂志2025，Vol.52Issue(4)：27-33,7.DOI:10.16636/j.cnki.jinn.1673-2642.2025.04.005
家族性低叶酸血症伴快速侵袭性动静脉血栓形成患者的6年追踪结果
Familial hypofolatemia with rapidly aggressive arteriovenous thrombosis:a 6-year follow-up of a patient
摘要
Abstract
A patient with hypofolatemia was followed up for 6 years to observe the dynamic evolution of thrombus.The levels of folic acid,homocysteine,and vitamin B12 were monitored,as well as carotid artery ultrasound,lower extremity arterial ultrasound,cranial MRI,and MRA,and genetic testing results were obtained.The patient experienced occlusion of the cortical branch of the left middle cerebral artery(folic acid 2.23 ng/mL)in the first year,deep vein thrombosis of the left lower extremity(folic acid 2.58 ng/mL)in the second year,and occlusion of most of the intracranial segment of the left internal carotid artery(folic acid 2.16 ng/mL)in the third year.In the fourth year,the patient experienced deep vein thrombosis of the right lower extremity,stenosis of the extracranial segment of the left internal carotid artery,and venous thrombosis of the right lower lung,with a folic acid level of 2.27 ng/mL,and folate supplementation was initiated at this time.New-onset thrombus was not observed in this patient in the fifth year.DNA microarray analysis showed T/T homozygous type(mutant type)at the 677 locus of the MTHFR gene.The patient died of pneumonia in the sixth year.Patients with such mutation may develop hypofolatemia,leading to rapidly aggressive multiple arteriovenous thrombosis throughout the body,and folate supplementation might be an effective treatment method.关键词
血栓形成/叶酸缺乏/追踪/基因突变Key words
thrombosis/folic acid deficiency/follow-up/gene mutation分类
医药卫生引用本文复制引用
余爱勇,周元,陈君华,汪霞,杨柳,张宏泽,俞超..家族性低叶酸血症伴快速侵袭性动静脉血栓形成患者的6年追踪结果[J].国际神经病学神经外科学杂志,2025,52(4):27-33,7.基金项目
松江区科学技术攻关项目(编号:22SJKJGG74). （编号:22SJKJGG74）
