Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.
Department of Endocrinology and Diabetes Center, G. Gennimatas General Hospital, 11527 Athens, Greece.
Nutrients. 2021 Mar 8;13(3):875. doi: 10.3390/nu13030875.
Primary aldosteronism (PA), a condition characterized by autonomous aldosterone hypersecretion, constitutes the most common cause of secondary hypertension. Over the last decade, major breakthroughs have been made in the field of genetics underpinning PA. The advent and wide application of Next Generation Sequencing (NGS) technology led to the identification of several somatic and germline mutations associated with sporadic and familial forms of PA. Somatic mutations in ion-channel genes that participate in aldosterone biosynthesis, including , , and , have been implicated in the development of aldosterone-producing adenomas (APAs). On the other hand, germline variants in , , , and genes have been implicated in the pathogenesis of the familial forms of PA, FH-II, FH-III, and F-IV, as well as PA associated with seizures and neurological abnormalities. However, recent studies have shown that the prevalence of PA is higher than previously thought, indicating the need for an improvement of our diagnostic tools. Further research is required to recognize mild forms of PA and to investigate the underlying molecular mechanisms.
原发性醛固酮增多症（PA）是一种以醛固酮自主分泌过多为特征的疾病，是继发性高血压最常见的病因。在过去的十年中，PA 的遗传学基础领域取得了重大突破。下一代测序（NGS）技术的出现和广泛应用导致了与散发性和家族性 PA 相关的几种体细胞和种系突变的鉴定。参与醛固酮生物合成的离子通道基因突变，包括 、 、 和 ，与醛固酮分泌腺瘤（APAs）的发生有关。另一方面， 、 、 和 基因的种系变异与家族性 PA、FH-II、FH-III 和 F-IV 的发病机制以及与癫痫和神经发育异常相关的 PA 有关。然而，最近的研究表明，PA 的患病率高于先前认为的水平，这表明需要改进我们的诊断工具。需要进一步研究来识别轻度 PA 并探讨潜在的分子机制。
