INSERM, UMRS_970, Paris Cardiovascular Research Center.
Université Paris Descartes, Sorbonne Paris Cité.
Curr Opin Endocrinol Diabetes Obes. 2018 Jun;25(3):147-154. doi: 10.1097/MED.0000000000000409.
Primary aldosteronism is the most common form of secondary hypertension. Early diagnosis and treatment are key to cure of hypertension and prevention of cardiovascular complications. Recent genetic discoveries have improved our understanding on the pathophysiology of aldosterone production and triggered the development of new diagnostic procedures and targeted treatments for primary aldosteronism.
Different inherited genetic abnormalities distinguish specific forms of familial hyperaldosteronism. Somatic mutations are found not only in aldosterone-producing adenoma (APA), leading to primary aldosteronism, but also in aldosterone producing cell clusters of normal and micronodules from image-negative adrenal glands. Genetic knowledge has allowed the discovery of surrogate biomarkers and specific pharmacological inhibitors. Ageing appears to be associated with dysregulated and relatively autonomous aldosterone production.
New biochemical markers and pharmacological approaches may allow preoperative identification of somatic mutation carriers and use of targeted treatments.
原醛症是继发性高血压最常见的类型。早期诊断和治疗是治愈高血压和预防心血管并发症的关键。最近的遗传发现提高了我们对醛固酮产生的病理生理学的理解，并引发了新的诊断程序和针对原醛症的靶向治疗的发展。
不同的遗传性遗传异常区分了特定类型的家族性高醛固酮血症。体细胞突变不仅存在于产生醛固酮的腺瘤（APA）中，导致原醛症，而且还存在于图像阴性肾上腺的正常和微结节中的醛固酮产生细胞簇中。遗传知识使发现替代生物标志物和特定的药理学抑制剂成为可能。随着年龄的增长，醛固酮的产生可能会出现失调和相对自主。
新的生化标志物和药理学方法可能允许术前识别体细胞突变携带者并使用靶向治疗。
