Primary aldosteronism

Definition:

Primary aldosteronism is a clinical syndrome characterized by excess secretion of aldosterone from the adrenal gland. It is manifested by hypertension and hyporeninemia. In the past, hypokalemia was thought to be a mandatory finding in primary aldosteronism. However, later studies confirmed that most patients with primary aldosteronism are normokalemic. The prevalence of primary aldosteronism among nonselected hypertensive persons is between 5% and 13%, and it is now recognized to be the most common form of secondary hypertension. There are the seven subtypes of primary aldosteronism. Aldosterone-producing adenoma (APA) and bilateral idiopathic hyperaldosteronism (IHA) are the most common subtypes of primary aldosteronism. Unilateral adrenal hyperplasia, aldosterone-producing adrenocortical carcinoma, ectopic aldosterone-producing adenoma, and familial hyperaldosteronism (type I and typeII) are unusual subtypes. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in APAs. Usually, adenomas are managed surgically and bilateral hyperplasia, medically.

References:

[1]. Asterios Karagiannis, et al. Eplerenone relieves spironolactone-induced painful gynaecomastia in a patient with primary aldosteronism. Nephrol Dial Transplant. 2007 Jan;22(1):293. [Content Brief]

[2]. Cecilia Mattsson, et al. Primary aldosteronism: diagnostic and treatment strategies. Nat Clin Pract Nephrol. 2006 Apr;2(4):198-208; quiz, 1 p following 230. [Content Brief]

[3]. Fabio Luiz Fernandes-Rosa, et al. Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma. Hypertension. 2014 Aug;64(2):354-61. [Content Brief]

[4]. George Piaditis, et al. Progress in aldosteronism: a review of the prevalence of primary aldosteronism in pre-hypertension and hypertension. Eur J Endocrinol. 2015 May;172(5):R191-203. [Content Brief]

[5]. H E Korah, et al. An Update on Familial Hyperaldosteronism. Horm Metab Res. 2015 Dec;47(13):941-6. [Content Brief]

[6]. Paolo Mulatero, et al. Role of KCNJ5 in familial and sporadic primary aldosteronism. Nat Rev Endocrinol. 2013 Feb;9(2):104-12. [Content Brief]

[7]. Ute I Scholl, et al. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife. 2015 Apr 24;4:e06315. [Content Brief]

[8]. Ute I Scholl, et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet. 2013 Sep;45(9):1050-4. [Content Brief]

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