Genetics of primary hyperaldosteronism

Endocr Relat Cancer. 2016 Oct;23(10):R437-54. doi: 10.1530/ERC-16-0055. Epub 2016 Aug 2.


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: calcium channel; familial; genetics; primary aldosteronism; sporadic.

Publication types

  • Review

MeSH terms

  • Adrenal Cortex Neoplasms / genetics*
  • Adrenal Cortex Neoplasms / metabolism
  • Adrenal Glands / pathology*
  • Adrenocortical Adenoma / genetics*
  • Adrenocortical Adenoma / metabolism
  • Aldosterone / genetics
  • Aldosterone / metabolism
  • Animals
  • Genetic Predisposition to Disease
  • Humans
  • Hyperaldosteronism / genetics*
  • Hyperplasia / genetics


  • Aldosterone