Genetic aspects of primary hyperaldosteronism

Abstract

Primary hyperaldosteronism (PHA) is the most common form of secondary hypertension of hormonal origin. It affects about 10% of all hypertensive patients. It is connected with increased morbidity and mortality from cardiovascular diseases (CVD) compared to patients with essential hypertension, at a similar age. Usually, it is an effect of bilateral adrenal hyperplasia (BAH) or aldosterone-producing adenoma (APA), rarer causes of PHA are: unilateral adrenal hyperplasia, aldosterone-producing adrenocortical carcinoma, ectopic aldosterone-producing tumors, and familial hyperaldosteronism (FH). Recent genetic studies have thrown a new light on the pathogenesis of PHA, classifying it as a channelopathy. Several mutations within the ion channels encoding genes have been identified. A possible link between PHA and polymorphism of aldosterone synthase gene and ion channel genes is still being investigated. In this manuscript, we focus on the genetic aspects of PHA, and present an up-to-date compilation of available data with a widened pathogenetic approach.