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

Abstract

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。 Abstract: 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.

Keywords

• 高温相关丝氨酸蛋白酶a1
• 杂合突变
• 遗传性脑小血管病
• htra1
• heterozygous mutation
• hereditary cerebral small vessel disease