• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

家族性高胆固醇血症伴早期冠状动脉粥样硬化性心脏病:一例报告。

Familial hypercholesterolemia with early coronary atherosclerotic heart disease: A case report.

作者信息

Luo Yanhong, Zheng Min, Zhang Yutin, He Shuang, Zhang Lei, Sun Huichao, Liu Xiaoyan, Tan Tao, Zhu Hua, He Jianfeng

机构信息

Department of Endocrinology and Genetic Metabolism, Children's Hospital Chongqing Medical University, Chongqing 400014, P.R. China.

Department of Cardiology, Children's Hospital Chongqing Medical University, Chongqing 400014, P.R. China.

出版信息

Exp Ther Med. 2019 Aug;18(2):981-986. doi: 10.3892/etm.2019.7653. Epub 2019 Jun 10.

DOI:10.3892/etm.2019.7653
PMID:31316595
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6601405/
Abstract

Patients with familial hypercholesterolemia usually present with high levels of serum low-density lipoprotein, xanthomas and early coronary artery disease. A 13 years old female patient was admitted to Children's Hospital of Chongqing Medical University presenting symptoms of heart failure. Laboratory tests showed that her cholesterol and low-density lipid levels were extremely high. Electrocardiogram test revealed that she had sinus tachycardia, QT lengthening and ST-T change. Multiple cardiac function abnormalities were diagnosed by echocardiogram. Multiple coronary artery stenosis was determined by computed tomography angiography. After the combination of lipid lowering, anti-thrombosis, and cardiac remodeling therapies, the patient's symptoms were significantly improved and the patient was discharged.

摘要

家族性高胆固醇血症患者通常表现为血清低密度脂蛋白水平升高、出现黄色瘤和早期冠状动脉疾病。一名13岁女性患者因出现心力衰竭症状入住重庆医科大学附属儿童医院。实验室检查显示她的胆固醇和低密度脂蛋白水平极高。心电图检查显示她有窦性心动过速、QT间期延长和ST-T改变。超声心动图诊断出多项心功能异常。计算机断层扫描血管造影确定存在多处冠状动脉狭窄。经过降脂、抗血栓和心脏重塑治疗相结合后,患者症状明显改善并出院。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6afc/6601405/63470c4798f6/etm-18-02-0981-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6afc/6601405/e8549a9ab0f9/etm-18-02-0981-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6afc/6601405/7e5b7a2805be/etm-18-02-0981-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6afc/6601405/b5910454af9a/etm-18-02-0981-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6afc/6601405/63470c4798f6/etm-18-02-0981-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6afc/6601405/e8549a9ab0f9/etm-18-02-0981-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6afc/6601405/7e5b7a2805be/etm-18-02-0981-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6afc/6601405/b5910454af9a/etm-18-02-0981-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6afc/6601405/63470c4798f6/etm-18-02-0981-g03.jpg

相似文献

1
Familial hypercholesterolemia with early coronary atherosclerotic heart disease: A case report.家族性高胆固醇血症伴早期冠状动脉粥样硬化性心脏病:一例报告。
Exp Ther Med. 2019 Aug;18(2):981-986. doi: 10.3892/etm.2019.7653. Epub 2019 Jun 10.
2
Acute coronary syndrome in an 8-year-old child with familial hypercholesterolemia: a case report.8 岁儿童家族性高胆固醇血症致急性冠脉综合征 1 例报告
J Med Case Rep. 2022 Jul 26;16(1):290. doi: 10.1186/s13256-022-03488-3.
3
Severe xanthomatosis in heterozygous familial hypercholesterolemia.杂合子家族性高胆固醇血症的严重黄色瘤病。
J Clin Lipidol. 2018 Jul-Aug;12(4):872-877. doi: 10.1016/j.jacl.2018.03.087. Epub 2018 Apr 3.
4
Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl.12 岁女孩因纯合子家族性高胆固醇血症导致的早发性冠状动脉疾病。
Balkan Med J. 2018 Mar 15;35(2):208-211. doi: 10.4274/balkanmedj.2017.0490. Epub 2017 Oct 26.
5
Marked aortic valve stenosis progression after receiving long-term aggressive cholesterol-lowering therapy using low-density lipoprotein apheresis in a patient with familial hypercholesterolemia.一名家族性高胆固醇血症患者在接受长期积极的低密度脂蛋白单采胆固醇降低治疗后,出现明显的主动脉瓣狭窄进展。
Circ J. 2009 May;73(5):963-6. doi: 10.1253/circj.cj-08-0164. Epub 2008 Dec 16.
6
Coronary artery bypass grafting in familial hypercholesterolemia.家族性高胆固醇血症的冠状动脉搭桥术
J Thorac Cardiovasc Surg. 1995 Feb;109(2):364-9. doi: 10.1016/S0022-5223(95)70398-5.
7
A Case of Premature Triple Vessel Coronary Artery Disease and Valvular Degeneration: A Rare Presentation of Familial Hypercholesterolemia.一例早发性三支冠状动脉疾病和瓣膜退变:家族性高胆固醇血症的罕见表现
Cureus. 2020 Oct 19;12(10):e11037. doi: 10.7759/cureus.11037.
8
Surgical removal of multiple xanthomas in familial hypercholesterolemia: a case report.家族性高胆固醇血症中多发性黄色瘤的手术切除:一例报告
Ann Med Surg (Lond). 2024 Mar 25;86(8):4754-4757. doi: 10.1097/MS9.0000000000001997. eCollection 2024 Aug.
9
Tuberous xanthoma with cardiac failure in a child.儿童结节性黄瘤伴心力衰竭
J Family Med Prim Care. 2022 Jun;11(6):3290-3292. doi: 10.4103/jfmpc.jfmpc_1416_21. Epub 2022 Jun 30.
10
Clinical determinants and treatment gaps in familial hypercholesterolemia: Data from a multi-ethnic regional health service.家族性高胆固醇血症的临床决定因素及治疗差距:来自多民族地区卫生服务机构的数据
Eur J Prev Cardiol. 2017 May;24(8):867-875. doi: 10.1177/2047487317693132. Epub 2017 Feb 10.

引用本文的文献

1
Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report.一名患有纯合子家族性高胆固醇血症的13岁女孩出现类风湿样手部畸形和主动脉瓣疾病:病例报告
J Med Case Rep. 2025 Feb 4;19(1):47. doi: 10.1186/s13256-025-05070-z.
2
Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis.家族性高胆固醇血症及其当前的诊断和治疗可能性:文献分析。
Medicina (Kaunas). 2022 Nov 17;58(11):1665. doi: 10.3390/medicina58111665.

本文引用的文献

1
Homozygous familial hypercholesterolaemia: update on management.纯合子家族性高胆固醇血症:管理进展
Paediatr Int Child Health. 2016 Nov;36(4):243-247. doi: 10.1080/20469047.2016.1246640.
2
The complexities of homozygous familial hypercholesterolemia management.纯合子家族性高胆固醇血症管理的复杂性。
Pediatr Transplant. 2016 Dec;20(8):1020-1021. doi: 10.1111/petr.12812.
3
HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom.英国心脏协会(HEART UK)关于英国纯合子家族性高胆固醇血症管理的声明。
Atherosclerosis. 2016 Dec;255:128-139. doi: 10.1016/j.atherosclerosis.2016.10.017. Epub 2016 Nov 5.
4
[Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society].[纯合子家族性高胆固醇血症:临床医生提高检测和临床管理水平的新见解与指导。欧洲动脉粥样硬化学会家族性高胆固醇血症共识小组立场文件]
Turk Kardiyol Dern Ars. 2015 Mar;43 Suppl 1:1-14.
5
Familial hypercholesterolaemia: A global call to arms.家族性高胆固醇血症:全球的行动呼吁。
Atherosclerosis. 2015 Nov;243(1):257-9. doi: 10.1016/j.atherosclerosis.2015.09.021. Epub 2015 Sep 18.
6
Challenges in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia.纯合子家族性高胆固醇血症的诊断与治疗挑战
Drugs. 2015 Oct;75(15):1715-24. doi: 10.1007/s40265-015-0466-y.
7
Screening and treatment of familial hypercholesterolemia - Lessons from the past and opportunities for the future (based on the Anitschkow Lecture 2014).家族性高胆固醇血症的筛查和治疗——过去的经验教训和未来的机遇(基于 2014 年 Anitschkow 讲座)。
Atherosclerosis. 2015 Aug;241(2):597-606. doi: 10.1016/j.atherosclerosis.2015.06.011. Epub 2015 Jun 9.
8
Seven-year clinical follow-up of a Chinese homozygous familial hypercholesterolemia child with premature xanthomas and coronary artery disease--a need for early diagnosis and aggressive treatment.一名患有早发性黄色瘤和冠状动脉疾病的中国纯合子家族性高胆固醇血症儿童的七年临床随访——早期诊断和积极治疗的必要性
Int J Cardiol. 2014 Nov 15;177(1):188-91. doi: 10.1016/j.ijcard.2014.09.058. Epub 2014 Sep 28.
9
Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial.依洛尤单抗抑制纯合子家族性高胆固醇血症(TESLA Part B):一项随机、双盲、安慰剂对照试验。
Lancet. 2015 Jan 24;385(9965):341-50. doi: 10.1016/S0140-6736(14)61374-X. Epub 2014 Oct 1.
10
Early development of xanthoma and coronary disease in a young female with homozygous familial hypercholesterolemia.一名患有纯合子家族性高胆固醇血症的年轻女性黄瘤和冠状动脉疾病的早期发展
Int J Cardiol. 2014 Sep;176(1):e15-9. doi: 10.1016/j.ijcard.2014.06.083. Epub 2014 Jul 6.