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摘要: 高脂血症是指血脂水平过高,临床表现主要是脂质在血管内皮沉积所引起的动脉硬化。脂代谢异常与突发性聋之间的关系尚不明确。本文报道的1例突发性聋合并家族性高胆固醇血症患者。纯音测听提示单耳中频感音性听力损失,实验室检查提示脂代谢异常,基因检测提示 APOA5 基因杂合突变。诊断为突发性聋;高脂血症,药物治疗效果良好。本文旨在分析总结脂代谢异常与突发性聋可能存在的联系。Abstract: Hyperlipidemia is characterized by elevated levels of blood lipids. The clinical manifestations are mainly atherosclerosis caused by the deposition of lipids in the vascular endothelium. The link between abnormal lipid metabolism and sudden hearing loss remains unclear. This article presents a case study of sudden hearing loss accompanied by familial hyperlipidemia. Pure tone audiometry indicated intermediate frequency hearing loss in one ear. Laboratory tests showed abnormal lipid metabolism, and genetic examination identified a heterozygous mutation in the APOA5 gene. Diagnosis: Sudden hearing loss; hypercholesterolemia. The patient responded well to pharmacological treatment. This paper aims to analyze and discuss thepotential connection between abnormal lipid metabolism and sudden hearing loss.
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Key words:
- sudden hearing loss /
- lipid metabolism /
- hyperlipemia
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表 1 患者实验室及基因检测
实验室检查 指标名称 检测值 正常值范围 总胆固醇/mmol/L 6.14 3.1~5.7 甘油三酯/mmol/L 2.74 0.4~1.7 低密度脂蛋白/mmol/L 4.27 0~3.4 脂代谢异常基因检测 异常基因 基因变异 合子状态 变异分类 APOA5 c.551C>G 杂合 VUS 他汀类药物代谢基因检测 多态性基因 基因变异 合子状态 基因型 SLCO1B1 388A>G 纯合 *1b/*1b APOE 388T>C 杂合 E3/E4 表 2 患者入院期间治疗情况
药物名称 剂量 途径 频次 时长 银杏叶提取物注射液 87.5 mg 静滴 1/d 7 d 注射用七叶皂苷钠 10.0 mg 静滴 1/d 7 d 地塞米松磷酸钠注射液 10.0 mg 莫非氏管入 1/d 前3 d 地塞米松磷酸钠注射液 5.0 mg 莫非氏管入 1/d 后3 d 前列地尔注射液 10.0 μg 莫非氏管入 1/d 7 d 甲钴胺注射液 500.0 μg 莫非氏管入 1/d 7 d -
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