Primary aldosteronism (PA) is the most common form of secondary hypertension affecting 5%–10% of patients with arterial hypertension. In PA, high blood pressure is associated with high aldosterone and low renin levels, and often hypokalemia. In a majority of cases, autonomous aldosterone production by the adrenal gland is caused by an aldosterone producing adenoma (APA) or bilateral adrenal hyperplasia (BAH). During the last ten years, a better knowledge of the pathophysiology of PA came from the discovery of somatic and germline mutations in different genes in both sporadic and familial forms of the disease. Those genes code for ion channels and pumps, as well as proteins involved in adrenal cortex development and function. Targeted next generation sequencing following immunohistochemistry guided detection of aldosterone synthase expression allows detection of somatic mutations in up to 90% of APA, while whole exome sequencing has discovered the genetic causes of four different familial forms of PA. The identification, in BAH, of somatic mutations in aldosterone producing cell clusters open new perspectives in our understanding of the bilateral form of the disease and the development of new therapeutic approaches.

原发性醛固酮增多症（PA）是继发性高血压的最常见形式，会影响5％–10％的动脉高血压患者。在PA中，高血压与高醛固酮和低肾素水平有关，通常与低钾血症有关。在大多数情况下，肾上腺自主产生醛固酮是由产生醛固酮的腺瘤（APA）或双侧肾上腺增生（BAH）引起的。在最近十年中，对PA的病理生理学有了更深入的了解，是从该疾病的散发性和家族性形式的不同基因中发现了体细胞和种系突变的发现。这些基因编码离子通道和泵，以及参与肾上腺皮质发育和功能的蛋白质。免疫组织化学指导的醛固酮合酶表达检测后的靶向下一代测序可检测多达90％的APA中的体细胞突变，而整个外显子组测序已发现四种不同家族型PA的遗传原因。在BAH中对醛固酮产生细胞簇中体细胞突变的鉴定为我们对这种疾病的双边形式和新治疗方法的发展提供了新的视角。