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Primary Aldosteronism: Molecular Genetics, Endocrinology, and Translational Medicine

Primary Aldosteronism: Molecular Genetics, Endocrinology, and Translational Medicine

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 A prevalent and treatable cause of hypertension that significantly increases the risk of cardiovascular morbidity and mortality. The complex diagnostic process relies first on screening with the Aldosterone-Renin Ratio (ARR), followed by several confirmatory aldosterone suppression tests. Precise differentiation between unilateral disease, such as an aldosterone-producing adenoma (APA), and bilateral hyperplasia requires the technically demanding procedure of Adrenal Vein Sampling (AVS) to guide treatment. Pathophysiologically, the text examines genetic factors, including mutations that impair potassium channel function and lead to different types of familial hyperaldosteronism (FH-I, FH-II, FH-III). Management options include potentially curative unilateral adrenalectomy or long-term medical therapy with mineralocorticoid receptor (MR) antagonists, both of which demonstrate a positive effect on patient outcomes and Quality of Life (QoL). Radiological techniques like CT and C-metomidate-PET are discussed for locating tumors, though they are usually insufficient for determining lateralization without AVS.

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