title: Genetics of primary hyperaldosteronism.
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.
authors.affiliation: Department of Clinical and Experimental MedicineMedical Faculty, Linköping University, Linköping, Sweden.
authors.forename: Ravi Kumar
authors.initials: RK
authors.lastname: Dutta
authors.affiliation: Department of Clinical and Experimental MedicineMedical Faculty, Linköping University, Linköping, Sweden.
authors.forename: Peter
authors.initials: P
authors.lastname: Söderkvist
authors.affiliation: Department of SurgeryCounty Council of Östergötland, Department of Clinical and Experimental Medicine, Medical Faculty, Linköping University, Linköping, Sweden oliver.gimm@liu.se.
authors.forename: Oliver
authors.initials: O
authors.lastname: Gimm
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000235:genetics* / Q000378:metabolism; D000311:Adrenal Glands / Q000473:pathology*; D018246:Adrenocortical Adenoma / Q000235:genetics* / Q000378:metabolism; D000450:Aldosterone / Q000235:genetics / Q000378:metabolism; D000818:Animals; D020022:Genetic Predisposition to Disease; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics*; D006965:Hyperplasia / Q000235:genetics
chemical_list: D000450:Aldosterone
keywords: calcium channel; familial; genetics; primary aldosteronism; sporadic