Genetics of primary hyperaldosteronism

    1. Oliver Gimm2
    1. 1Department of Clinical and Experimental Medicine, Medical Faculty, Linköping University, Linköping, Sweden
    2. 2Department of Surgery, County Council of Östergötland, Department of Clinical and Experimental Medicine, Medical Faculty, Linköping University, Linköping, Sweden
    1. Correspondence should be addressed to O Gimm; Email: oliver.gimm{at}liu.se

    Abstract

    Hypertension is a common medical condition and affects approximately 20% of the population in developed countries. Primary aldosteronism is the most common form of secondary hypertension and affects 8–13% of patients with hypertension. The two most common causes of primary aldosteronism are aldosterone-producing adenoma and bilateral adrenal hyperplasia. Familial hyperaldosteronism types I, II and III are the known genetic syndromes, in which both adrenal glands produce excessive amounts of aldosterone. However, only a minority of patients with primary aldosteronism have one of these syndromes. Several novel susceptibility genes have been found to be mutated in aldosterone-producing adenomas: KCNJ5, ATP1A1, ATP2B3, CTNNB1, CACNA1D, CACNA1H and ARMC5. This review describes the genes currently known to be responsible for primary aldosteronism, discusses the origin of aldosterone-producing adenomas and considers the future clinical implications based on these novel insights.

    Keywords
    • Received 8 July 2016
    • Accepted 1 August 2016
    • Made available online as an Accepted Preprint 2 August 2016
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