谷甾醇血症：一例报告及简要文献综述。
Sitosterolemia: A Case Report and a Concise Literature Review.
作者信息
Mahzari Moeber M
机构信息
College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.
出版信息
Case Rep Endocrinol. 2023 Mar 8;2023:4451595. doi: 10.1155/2023/4451595. eCollection 2023.
BACKGROUND
Sitosterolemia is a relatively rare metabolism lipid disorder, with about 110 cases worldwide and only a few known cases from the Middle East. Sitosterolemia is characterized by excessive uptake of phytosterols and their deposition in various tissues, leading to complications. Mutations in the ABCG5 and ABCG8 genes are associated with pathological changes in sitosterolemia. . An adult patient from Saudi Arabia with dyslipidemia who did not respond to statin therapy. Based on genetic testing, the patient was eventually diagnosed with sitosterolemia. Ezetimibe significantly improved his cholesterol levels.
CONCLUSION
The diagnosis of sitosterolemia is confirmed by the detection of high-phytosterol levels and pathological mutation in the ABCG5 and ABCG8 genes. Treatment of sitosterolemia is based on dietary changes and drugs to inhibit cholesterol absorption, such as ezetimibe.
背景
谷甾醇血症是一种相对罕见的代谢性脂质紊乱疾病，全球约有110例病例，中东地区仅有少数已知病例。谷甾醇血症的特征是植物甾醇过度摄取及其在各种组织中的沉积，从而导致并发症。ABCG5和ABCG8基因的突变与谷甾醇血症的病理变化相关。一名来自沙特阿拉伯的成年血脂异常患者对他汀类药物治疗无反应。基于基因检测，该患者最终被诊断为谷甾醇血症。依折麦布显著改善了他的胆固醇水平。
结论
通过检测高植物甾醇水平以及ABCG5和ABCG8基因的病理突变来确诊谷甾醇血症。谷甾醇血症的治疗基于饮食改变和抑制胆固醇吸收的药物，如依折麦布。
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