Genetics of primary hyperaldosteronism

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 aldoster...

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Published inEndocrine-related cancer Vol. 23; no. 10; pp. R437 - R454
Main Authors Dutta, Ravi Kumar, Söderkvist, Peter, Gimm, Oliver
Format Journal Article
LanguageEnglish
Published England Bioscientifica Ltd 01.10.2016
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Summary: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.
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ISSN:1351-0088
1479-6821
1479-6821
DOI:10.1530/ERC-16-0055