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原发性醛固酮增多症中体细胞突变的心血管和代谢特征。

Cardiovascular and metabolic characters of somatic mutations in primary aldosteronism.

机构信息

Cardiology Division of Cardiovascular Medical Center, Far Eastern Memorial Hospital, New Taipei City, Taiwan.

Graduate Institute of Medicine, Yuan Ze University, Taoyuan, Taiwan.

出版信息

Front Endocrinol (Lausanne). 2023 Mar 6;14:1061704. doi: 10.3389/fendo.2023.1061704. eCollection 2023.

Abstract

BACKGROUND

Primary aldosteronism (PA) is the leading cause of curable endocrine hypertension, which is associated with a higher risk of cardiovascular and metabolic insults compared to essential hypertension. Aldosterone-producing adenoma (APA) is a major cause of PA, which can be treated with adrenalectomy. Somatic mutations are the main pathogenesis of aldosterone overproduction in APA, of which somatic mutations are most common, especially in Asian countries. This article aimed to review the literature on the impacts of somatic mutations on systemic organ damage.

EVIDENCE ACQUISITION

PubMed literature research using keywords combination, including "aldosterone-producing adenoma," "somatic mutations," "," "organ damage," "cardiovascular," "diastolic function," "metabolic syndrome," "autonomous cortisol secretion," etc.

RESULTS

APA patients with somatic mutations are generally younger, female, have higher aldosterone levels, lower potassium levels, larger tumor size, and higher hypertension cure rate after adrenalectomy. This review focuses on the cardiovascular and metabolic aspects of somatic mutations in APA patients, including left ventricular remodeling and diastolic function, abdominal aortic thickness and calcification, arterial stiffness, metabolic syndrome, abdominal adipose tissue, and correlation with autonomous cortisol secretion. Furthermore, we discuss modalities to differentiate the types of mutations before surgery.

CONCLUSION

somatic mutations in patients with APA had higher left ventricular mass (LVM), more impaired diastolic function, thicker aortic wall, lower incidence of metabolic syndrome, and possibly a lower incidence of concurrent autonomous cortisol secretion, but better improvement in LVM, diastolic function, arterial stiffness, and aortic wall thickness after adrenalectomy compared to patients without mutations.

摘要

背景

原醛症(PA)是可治愈的内分泌性高血压的主要病因,与原发性高血压相比,其心血管和代谢损害的风险更高。醛固酮瘤(APA)是 PA 的主要病因之一,可通过肾上腺切除术进行治疗。体细胞突变是 APA 中醛固酮过度产生的主要发病机制,其中体细胞突变最为常见,尤其是在亚洲国家。本文旨在综述关于体细胞突变对全身器官损害影响的文献。

证据获取

通过关键词组合(包括“醛固酮瘤”、“体细胞突变”、“”、“器官损害”、“心血管”、“舒张功能”、“代谢综合征”、“自主皮质醇分泌”等),在 PubMed 上进行文献研究。

结果

APA 患者中存在体细胞突变者通常更年轻、女性、醛固酮水平更高、血钾水平更低、肿瘤体积更大、肾上腺切除术后高血压治愈率更高。本综述重点讨论了 APA 患者体细胞突变的心血管和代谢方面,包括左心室重构和舒张功能、腹主动脉厚度和钙化、动脉僵硬度、代谢综合征、腹部脂肪组织,以及与自主皮质醇分泌的相关性。此外,我们还讨论了在手术前区分突变类型的方法。

结论

APA 患者存在体细胞突变者的左心室质量(LVM)更高,舒张功能受损更严重,主动脉壁更厚,代谢综合征发生率更低,可能并发自主皮质醇分泌的发生率更低,但在肾上腺切除术后 LVM、舒张功能、动脉僵硬度和主动脉壁厚度的改善情况可能更好。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce00/10025475/add2f1b07a19/fendo-14-1061704-g001.jpg

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