HTRA1基因杂合突变相关遗传性脑小血管病1例并文献复习  

Heterozygous HTRA1-related Hereditary Cerebral Small Vessel Disease:A Case Report and Literature Review

作　　者：祖煜 于莎莎 张玉婧 吕晶 冯雪丹[1] ZU Yu;YU Shasha;ZHANG Yujing;LYU Jing;FENG Xuedan(Department of Neurology,the Beijing Fengtai Youanmen Hospital,Beijing 100069,China)

机构地区：[1]北京丰台右安门医院神经内科,北京100069

出　　处：《中国卒中杂志》2023年第9期1054-1059,共6页Chinese Journal of Stroke

摘　　要：本文对1例60岁男性轻度认知障碍、头晕患者的临床症状、影像学和基因检测结果进行分析。该患者既往有高血压、高脂血症、高尿酸血症病史,以及长期吸烟、饮酒史,其母亲曾患痴呆,头颅MRI示多发腔隙性脑梗死、脑白质变性和多发微出血病灶,基因检测报告示HTRA1基因c.1174T>C杂合突变,以上结果符合HTRA1基因杂合突变相关遗传性脑小血管病的诊断。Clinical symptoms,imaging findings,and genetic testing results of a 60-year-old male patient with mild cognitive impairment and dizziness were analyzed.The patient had a history of hypertension,hyperlipidemia,hyperuricemia,and long-term smoking and alcohol consumption.His mother had dementia.Cranial magnetic resonance images revealed multiple lacunar infarctions,white matter degeneration,and multiple microbleeding lesions.Genetic testing report showed a heterozygous mutation in the HTRA1 gene(c.1174T>C).All of above results are consistent with the diagnosis of heterozygous HTRA1-related hereditary cerebral small vessel disease.

关 键 词：高温相关丝氨酸蛋白酶A1 杂合突变 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]