Abstract
Primary aldosteronism (PA) is the most common endocrine form of high blood pressure (BP) and causes excessive organ damage to the heart, vessels, and kidneys, which translates into an excess of cardiovascular events.
When the diagnosis is made early on and an appropriate therapy is timely instituted, the hyperaldosteronism and the hypokalemia can be cured in practically all the cases, while the arterial hypertension is cured in about 40 % of the cases and BP control markedly ameliorated in the rest. Thus, an aggressive diagnostic approach in hypertensive patients is justified.
The recent discoveries with molecular biology techniques have led to the identification of some mechanisms that can explain the persistent hyperaldosteronism in spite of the high BP, the hypokalemia, and the suppression of renin, all factors that would be expected to shut down aldosterone secretion.
The purpose of this chapter is to provide updated information on molecular genetics of PA and the diagnostic strategy for case detection and subtype differentiation of PA. While a cost effective strategy for the screening of patients with PA can be exploited at most centers, the identification of its subtypes involves adrenal vein sampling, which is a procedure technically difficult to perform and interpret. Therefore, it should be undertaken at tertiary referral centers with experience in performing and interpreting this test.
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Acknowledgments
The studies reported in this chapter were supported by research grants from FORICA (The FOundation for advanced Research in Hypertension and CArdiovascular diseases), from the Young Research Program of the Italy’s Health Minister Project GR-2009–1524351 and the Società Italiana dell’Ipertensione Arteriosa.
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Rossi, G.P., Lenzini, L. (2014). Primary Aldosteronism: Molecular Mechanisms and Diagnosis. In: Hellman, P. (eds) Primary Aldosteronism. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-0509-6_1
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