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与醛固酮分泌性腺瘤(APAs)相关的体细胞突变

Somatic Mutations Associated with Aldosterone-Producing Adenomas (APAs).

作者信息

Abd Rahman Aina Nadheera, Azizan Elena Aisha

机构信息

Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia (UKM), Kuala Lumpur 56000, Malaysia.

出版信息

Genes (Basel). 2025 Jun 30;16(7):778. doi: 10.3390/genes16070778.

Abstract

Hypertension is a critical health concern as it affects millions of people worldwide and leads to increased risk factors for other diseases such as cardiovascular diseases and stroke. Hypertension is commonly categorized into primary hypertension and secondary hypertension, with the latter frequently curable when caused by the presence of a benign adrenal adenoma that produces excessive adrenal hormones. The incidence rate of these adrenal adenomas is relatively high, in keeping with the hyperplastic/hypermutable characteristic of the adrenal gland. One of the most common functional adrenal adenomas are the aldosterone-producing adenomas (APAs), which develop from the adrenal cortex and, as per the name, produce excessive amounts of the adrenal hormone aldosterone, leading to hypertension. Investigations of genetic causes of these adenomas have revealed that the de novo somatic mutations that commonly cause the increase in aldosterone production mostly involve changes in intracellular concentration. Herein, we review the somatic genetic alterations that have been reported in APAs over the decade.

摘要

高血压是一个至关重要的健康问题,因为它影响着全球数百万人,并导致患其他疾病(如心血管疾病和中风)的风险因素增加。高血压通常分为原发性高血压和继发性高血压,后者在由产生过多肾上腺激素的良性肾上腺腺瘤引起时通常是可治愈的。这些肾上腺腺瘤的发病率相对较高,这与肾上腺的增生/高突变特性相符。最常见的功能性肾上腺腺瘤之一是醛固酮瘤(APAs),它起源于肾上腺皮质,顾名思义,会产生过量的肾上腺激素醛固酮,导致高血压。对这些腺瘤的遗传病因的研究表明,通常导致醛固酮分泌增加的新生体细胞突变大多涉及细胞内浓度的变化。在此,我们回顾了过去十年中报道的醛固酮瘤中的体细胞遗传改变。

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