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Genetics of primary hyperaldosteronism
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics.
Linköping University, Department of Clinical and Experimental Medicine, Division of Clinical Sciences. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Surgery, Orthopaedics and Cancer Treatment, Department of Surgery in Linköping.
2016 (English)In: Endocrine-Related Cancer, ISSN 1351-0088, E-ISSN 1479-6821, Vol. 23, no 10, R437-R454 p.Article, review/survey (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
BIOSCIENTIFICA LTD , 2016. Vol. 23, no 10, R437-R454 p.
Keyword [en]
primary aldosteronism; genetics; familial; sporadic; calcium channel
National Category
Gastroenterology and Hepatology
Identifiers
URN: urn:nbn:se:liu:diva-133123DOI: 10.1530/ERC-16-0055ISI: 000387602700004PubMedID: 27485459OAI: oai:DiVA.org:liu-133123DiVA: diva2:1055248
Available from: 2016-12-12 Created: 2016-12-09 Last updated: 2016-12-12

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Dutta, Ravi KumarSöderkvist, PeterGimm, Oliver
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Division of Cell BiologyFaculty of Medicine and Health SciencesDepartment of Clinical Pathology and Clinical GeneticsDivision of Clinical SciencesDepartment of Surgery in Linköping
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Endocrine-Related Cancer
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