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- W2098826265 endingPage "R77" @default.
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- W2098826265 abstract "Primary aldosteronism (PA) is the most common and curable form of secondary hypertension. It is caused in the majority of cases by either unilateral aldosterone overproduction due to an aldosterone-producing adenoma (APA) or by bilateral adrenal hyperplasia. Recent advances in genome technology have allowed researchers to unravel part of the genetic abnormalities underlying the development of APA and familial hyperaldosteronism. Recurrent somatic mutations in genes coding for ion channels ( KCNJ5 and CACNA1D ) and ATPases ( ATP1A1 and ATP2B3 ) regulating intracellular ionic homeostasis and cell membrane potential have been identified in APA. Similar germline mutations of KCNJ5 were identified in a severe familial form of PA, familial hyperaldosteronism type 3 (FH3), whereas de novo germline CACNA1D mutations were found in two cases of hyperaldosteronism associated with a complex neurological disorder. These results have allowed a pathophysiological model of APA development to be established. This model involves modifications in intracellular ionic homeostasis and membrane potential, accounting for ∼50% of all tumors, associated with specific gender differences and severity of PA. In this review, we describe the different genetic abnormalities associated with PA and discuss the mechanisms whereby they lead to increased aldosterone production and cell proliferation. We also address some of the foreseeable consequences that genetic knowledge may contribute to improve diagnosis and patient care." @default.
- W2098826265 created "2016-06-24" @default.
- W2098826265 creator A5017494730 @default.
- W2098826265 creator A5068164050 @default.
- W2098826265 creator A5086172052 @default.
- W2098826265 date "2014-11-25" @default.
- W2098826265 modified "2023-09-25" @default.
- W2098826265 title "An update on novel mechanisms of primary aldosteronism" @default.
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