1例反复脑卒中发作Fabry病患者的临床资料及家系基因检测结果分析  

Clinical data and results of family genes detection on one patient with Fabry's disease suffered recur⁃rent stroke

作　　者：陈林发 李友 戴永武 贺文麟 刘娟丽 蔡秀曲 黄靓 唐劭年 李江 黄志勇[1] 颜津津[1] CHEN Linfa;LI You;DAI Yongwu;HE Wenlin;LIU Juanli;CAI Xiuqu;HUANG Liang;TANG Shaonian;LI Jiang;HUANG Zhiyong;YAN Jinjin(Department of Neurology,Huizhou Third People's Hospital,Guangzhou Medical University,Huizhou 516002,China;不详)

机构地区：[1]广州医科大学惠州医院惠州市第三人民医院神经内科,广东惠州516002 [2]广东医科大学附属医院广东省衰老相关心脑疾病重点实验室

出　　处：《山东医药》2021年第21期39-42,共4页Shandong Medical Journal

摘　　要：目的分析反复脑卒中发作Fabry病患者的临床资料及其家系基因检测结果,总结其临床特点和遗传特征。方法1例青年脑卒中患者,3年内先后3次出现脑卒中症状,分析其临床表现及辅助检查结果,并进行家系调查。抽取患者、患者女儿、患者母亲外周静脉血各2 mL,进行高通量外显子区基因测序,分析其遗传特点。结果患者反复脑卒中,影像学检查发现颅内多发异常钙化、椎基底动脉异常扩张、卵圆孔未闭,出现肢端感觉异常、发作性疼痛等神经系统病变,视物模糊、视力下降等眼部病变,听力减退及耳鸣症状。患者母亲、患者女儿均有Fabry病临床特征。患者、患者母亲、患者女儿均存在GLA基因g.8319 A>G突变,为X染色体连锁遗传代谢疾病,符合Fabry病诊断。结论Fabry病患者可以表现为反复脑卒中、椎基底动脉异常扩张等临床特征,GLA基因g.8319 A>G突变为其致病原因之一,本例患者突变基因遗传自母亲,并遗传给女儿。Objective To analyze the clinical data and results of family genes detection on one patient with Fabry's disease suffered recurrent stroke,and to summarize their clinical characteristics and genetic features.Methods A young patient with cerebral apoplexy developed stroke symptoms three times in three years.The clinical manifestations and auxiliary examination results of the patient were analyzed,and the pedigree investigation was conducted.Two mL peripher-al venous blood was collected from the patient,the daughter and the mother of the patient respectively.The high-through-put exon sequencing was performed to analyze their genetic characteristics.Results The patient suffered from recurrent strokes.Imaging examination showed multiple abnormal intracranial calcification,abnormal dilatation of vertebral basilar artery and patent foramen ovale.The patient also presented with acroparesthesia,paroxysthetic pain and other neurological lesions,and ocular lesions such as blurred vision and decreased vision,as well as hearing loss and tinnitus symptoms.Both mother and daughter of the patient showed clinical features of Fabry’s disease.The patient,the daughter and the mother of the patient all carried with the g.8319 A>G mutation of GLA gene,which was a kind of X-chromosome linked genetic metabolic disease,conformed to the diagnosis of Fabry’s disease.Conclusions Patients with Fabry’s disease may present recurrent stroke,abnormal dilatation of vertebrobasilar artery and other clinical features.One of the causes of Fabry’s disease is the g.8319 A>G mutation of GLA gene.This patient inherits the mutant gene from his mother and passes it to his daughter.

关 键 词：FABRY病 青年卒中 半乳糖甘酶基因 突变 基底动脉扩张 颅内钙化 

分 类 号：R743[医药卫生—神经病学与精神病学]