Inserm, PARCC, Université de Paris, F-75015 Paris, France.
Inserm, PARCC, Université de Paris, F-75015 Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France.
Trends Mol Med. 2020 Sep;26(9):819-832. doi: 10.1016/j.molmed.2020.05.005. Epub 2020 Jun 18.
Aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia are the main cause of primary aldosteronism (PA), the most frequent form of secondary hypertension. Mutations in ion channels and ATPases have been identified in APA and inherited forms of PA, highlighting the central role of calcium signaling in PA development. Different somatic mutations are also found in aldosterone-producing cell clusters in adrenal glands from healthy individuals and from patients with unilateral and bilateral PA, suggesting additional pathogenic mechanisms. Recent mouse models have also contributed to a better understanding of PA. Application of genetic screening in familial PA, development of surrogate biomarkers for somatic mutations in APA, and use of targeted treatment directed at mutated proteins may allow improved management of patients.
醛固酮瘤（APA）和双侧肾上腺增生是原发性醛固酮增多症（PA）的主要原因，也是最常见的继发性高血压类型。在 APA 和遗传性 PA 中已经发现离子通道和 ATP 酶的突变，这突出了钙信号在 PA 发展中的核心作用。在来自单侧和双侧 PA 患者以及健康个体的肾上腺中产生醛固酮的细胞簇中也发现了不同的体细胞突变，这表明存在其他致病机制。最近的小鼠模型也有助于更好地理解 PA。在家族性 PA 中应用遗传筛查、开发 APA 体细胞突变的替代生物标志物，以及使用针对突变蛋白的靶向治疗，可能会改善患者的治疗效果。
