HTRA丝氨酸肽酶1基因杂合突变相关脑小血管病一例  

HTRA serine peptidase 1 gene heterozygous mutation-associated cerebral small vessel disease:a case report

作　　者：陈若梦 苏旭东 仇福成[1] 刘晓云 Chen Ruomeng;Su Xudong;Qiu Fucheng;Liu Xiaoyun(Department of Neurology,the First Hospital of Hebei Medical University,Shijiazhuang 050000,China)

机构地区：[1]河北医科大学第一医院神经内科,石家庄050000

出　　处：《中国脑血管病杂志》2024年第7期467-471,共5页Chinese Journal of Cerebrovascular Diseases

基　　金：河北省重点研发计划(20377701D)。

摘　　要：报道1例诊断为HTRA丝氨酸肽酶1(HTRA1)基因杂合突变相关脑小血管病(CSVD)的52岁女性患者。该例患者既往无高血压病、糖尿病史,无烟酒嗜好;其外祖父、外祖母为近亲结婚,外祖母及母亲死于脑梗死;临床表现为复发性脑梗死、轻度认知障碍,头部MRI示多发腔隙性脑梗死、广泛脑白质变性和微出血病灶;全外显子组基因检测报告示HTRA1 c.947A>G杂合突变。对于CSVD患者应追问其家族史,对疑似遗传性CSVD患者,需考虑存在HTRA1基因杂合突变的可能;并合理借助基因检测方法,筛选CSVD高危家族患者并进一步指导治疗。A 52-year-old female patient diagnosed with hereditary cerebral small vessel disease(CSVD),with clinical manifestations of recurrent stroke and mild cognitive impairment was reported.There was no history of hypertension or diabetes,and her maternal grandparents were consanguineous.Her maternal grandmother and mother died of cerebral infarction.Cranial magnetic resonance imaging showed multiple lacunar cerebral infarcts,cerebral white matter degeneration and microhemorrhagic foci,and whole exome sequencing reported a heterozygous mutation c.947A>G in the high-temperature requirement A serine peptidase 1(HTRA1).For patients with CSVD,the family history should be asked,and for patients with suspected hereditary CSVD,the possibility of HTRA1 heterozygous mutations should be considered.Reasonable use of genetic testing methods to screen high-risk families of CSVD patients and further guide treatment.

关 键 词：大脑小血管疾病 脑梗死 HTRA丝氨酸肽酶1 突变 误义 遗传性脑小血管病 

分 类 号：R743[医药卫生—神经病学与精神病学]