| 潘宇帆,李嵘娟,谢谨捷,崇梅,王绿娅,杨娅.β-谷固醇血症临床及超声表现[J].中国医学影像技术,2022,38(5):679~683 |
| β-谷固醇血症临床及超声表现 |
| Clinical and ultrasonographic features of β-sitosterolemia |
| 投稿时间：2021-08-28 修订日期：2022-01-22 |
| DOI：10.13929/j.issn.1003-3289.2022.05.009 |
| 中文关键词: 谷固醇血症 心血管疾病 超声检查 |
| 英文关键词:sitosterolemia cardiovascular diseases ultrasonography |
| 基金项目:国家重点研发计划(2021YFC2500600、2021YFC2500602)、国家自然科学基金(81873896)。 |
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| 中文摘要: |
| 目的 观察不同基因型β-谷固醇血症临床及超声表现。方法 回顾性分析37例经基因检测确诊的β-谷固醇血症患者,观察其临床表现、实验室检查结果、心脏及颈动脉超声表现。结果 37例中,32例(32/37,86.49%)主因黄色瘤就诊;28例(28/37,75.68%)三磷酸腺苷结合盒转运蛋白G5(ABCG5)基因突变、7例(7/37,18.92%)为三磷酸腺苷结合盒转运蛋白G8(ABCG8)基因突变、2例(2/37,5.41%)ABCG5和ABCG8基因双重杂合突变。全部患者总胆固醇、低密度脂蛋白胆固醇及菜籽固醇均明显升高。主要异常超声心动图表现包括瓣膜反流(16/37,43.24%)、肺动脉瓣狭窄(1/37,2.70%)、主动脉瓣钙化(2/37,5.41%)及主动脉窦管交界处钙化(2/37,5.41%),其中19例存在ABCG5突变(19/21,90.48%)。8例(8/37,21.62%)颈动脉超声显示颈动脉粥样硬化斑块,其中7例(7/8,87.50%)ABCG5突变、3例伴颈动脉内-中膜增厚。结论 β-谷固醇血症多表现为黄色瘤、血脂和血植物固醇水平升高;超声可见心脏瓣膜损害及动脉粥样硬化等心血管损伤,尤其在ABCG5突变患者。 |
| 英文摘要: |
| Objective To observe the clinical and ultrasonographic features of different genotypes β-sitosterolemia.Methods Thirty-seven patients with β-sitosterolemia diagnosed by genetic testing were enrolled, and the clinical manifestations, laboratory results, echocardiographic and carotid ultrasonic findings were observed.Results Among 37 patients, 32 cases (32/37, 86.49%) sought medical advice mainly for xanthoma, 28 (28/37, 75.68%) with adenosine triphosphate-binding cassette transporter G5 (ABCG5) gene mutations, 7 (7/37, 18.92%) with adenosine triphosphate-binding cassette transporter G8 (ABCG8) gene mutations and 2 cases (2/37, 5.41%) with double heterozygous mutations in ABCG5 and ABCG8 genes. Marked high levels of total cholesterol, low density lipoprotein-cholesterol and campesterol were observed in all 37 cases. The main abnormal echocardiographic findings included valve regurgitation (16/37, 43.24%), pulmonary valve stenosis (1/37, 2.70%), aortic calcification (2/37, 5.41%) and aortic sinus junction calcification (2/37, 5.41%) mostly in patients with ABCG5 mutation (19/21, 90.48%). Carotid atherosclerotic plaques were noticed in 8 cases (8/37, 21.62%), including 7 cases with ABCG5 mutation (7/8, 87.50%) and with accompanied carotid intima-media thickening in 3 cases.Conclusion Most patients with β-sitosterolemia had xanthomas and increased levels of blood lipid and blood phytosterol. Echocardiography could show cardiovascular damages, such as heart valve damage and atherosclerosis in β-sitosterolemia patients,especially in those with ABCG5 mutation. |
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