单基因糖尿病患者过早出现冠状动脉疾病和严重的高甘油三酯血症:病例报告

V. I. Mikhailina, A. N. Meshkov, A. Kiseleva, A. Ershova, M. Zaichenoka, E. S. Luboyatnikova, M. S. Pokrovskaya, O. Drapkina
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引用次数: 0

摘要

目的。青年成熟期糖尿病(MODY)是一组常染色体显性遗传的单基因疾病。这种疾病很少确诊,成人发病率为万分之一,儿童发病率为 2.3 万分之一。简要说明。我们报告了一例患有单基因糖尿病 HNF4A-MODY、严重高甘油三酯血症、进行性早发冠心病和 HNF4A 基因致病变异(ENST00000316099.8:c.1145dup)的患者。本病例证明了包括恩格列净在内的三联降糖疗法治疗单基因糖尿病的有效性。尽管糖尿病患者达到了目标糖化血红蛋白水平,但该病与其他心血管危险因素(高血压、高甘油三酯血症、肥胖、吸烟、男性)的结合导致了冠状动脉和外周动脉粥样硬化的进展。考虑到基因检测数据,应考虑恢复磺脲类药物治疗。患者必须严格遵守降脂饮食,并接受联合降脂治疗(洛伐他汀、非诺贝特和欧米加-3 多不饱和脂肪酸),以达到低密度脂蛋白胆固醇<1.4 毫摩尔/升和甘油三酯<1.7 毫摩尔/升的目标水平。
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Premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes: a case report
Aim. Maturity- onset diabetes of the young (MODY) is a group of monogenic diseases with an autosomal dominant inheritance. This is a rarely diagnosed disease, occurring in 1 of 10 thousand adults and in 1 of 23 thousand children. Brief description. We present a case report of a patient with a monogenic diabetes HNF4A-MODY, severe hypertriglyceridemia, progressive premature coronary artery disease and a HNF4A gene pathogenic variant (ENST00000316099.8:c.1145dup).Discussion. This case demonstrates the effectiveness of triple hypoglycemic therapy, including empagliflozin for the treatment of monogenic diabetes. Despite the fact that the patient with diabetes reached the target glycated hemoglobin level, the combination of the disease with other cardiovascular risk factors (hypertension, hypertriglyceridemia, obesity, smoking, male sex) led to the progression of coronary and peripheral atherosclerosis. Considering the data of genetic testing, returning to sulfonylurea therapy should be considered. It is important for patient to follow a strict lipid-lowering diet and taking combination lipid-lowering therapy (rosuvastatin, fenofibrate and omega-3 polyunsaturated fatty acids) in order to achieve the target level of low-density lipoprotein cholesterol <1,4 mmol/l and triglycerides <1,7 mmol/l.
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来源期刊
Cardiovascular Therapy and Prevention
Cardiovascular Therapy and Prevention Medicine-Cardiology and Cardiovascular Medicine
CiteScore
1.70
自引率
0.00%
发文量
155
审稿时长
6-12 weeks
期刊介绍: The most important objectives of the journal are: the generalization of scientific and practical achievements in the field of cardiology, increasing scientific and practical skills of cardiologists. The scientific concept of publication does the publication of modern achievements in the field of epidemiology, prevention and treatment of cardiovascular diseases, the results of research, national and international clinical trials. For publication in the journal are invited both domestic and foreign scientists and clinicians working in the field of cardiology, as well as doctors of other specialties. The magazine covers various issues in cardiology and related specialties. Each issue is prepared by Executive editor of the issue, a respected specialist in the field of epidemiology, prevention and treatment of cardiovascular diseases. The main focus of the publication — scientific articles on original research, the pharmacotherapy of cardiovascular disease, new diagnostic methods. All members of the group of authors should meet all four criteria of authorship set forth in the ICMJE recommendations: 1) concept and design development or data analysis and interpretation, and 2) manuscript justification or verification of critical intellectual content, and 3) final approval for publication of the manuscript, and 4) consent to be responsible for all aspects of the work, and assume that issues relating to the thoroughness and diligent execution of any part of the study submitted are duly investigated and resolved. Great importance the editors attached to the preparation of scientific papers by groups of authors at a high level, literacy, authors, and their ownership information, availability of research results not only to colleagues in Russia, but also abroad.
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