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Clinical Translationality of KCNJ5 Mutation in Aldosterone Producing Adenoma

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MDPI
DOI: 10.3390/ijms23169042

关键词

primary aldosteronism; KCNJ5; aldosterone producing adenoma; genetic abnormality

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  1. Japanese Ministry of Health, Labour and Welfare

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Hypertension caused by primary aldosteronism poses a greater risk of severe cardiovascular complications compared to essential hypertension. The discovery of the KCNJ5 somatic mutation and the presence of CYP11B2-positive aldosterone-producing micronodules have significantly advanced our understanding of the pathogenesis of primary aldosteronism.
Hypertension due to primary aldosteronism poses a risk of severe cardiovascular complications compared to essential hypertension. The discovery of the KCNJ5 somatic mutation in aldosteroene producing adenoma (APA) in 2011 and the development of specific CYP11B2 antibodies in 2012 have greatly advanced our understanding of the pathophysiology of primary aldosteronism. In particular, the presence of CYP11B2-positive aldosterone-producing micronodules (APMs) in the adrenal glands of normotensive individuals and the presence of renin-independent aldosterone excess in normotensive subjects demonstrated the continuum of the pathogenesis of PA. Furthermore, among the aldosterone driver mutations which incur excessive aldosterone secretion, KCNJ5 was a major somatic mutation in APA, while CACNA1D is a leading somatic mutation in APMs and idiopathic hyperaldosteronism (IHA), suggesting a distinctive pathogenesis between APA and IHA. Although the functional detail of APMs has not been still uncovered, its impact on the pathogenesis of PA is gradually being revealed. In this review, we summarize the integrated findings regarding APA, APM or diffuse hyperplasia defined by novel CYP11B2, and aldosterone driver mutations. Following this, we discuss the clinical implications of KCNJ5 mutations to support better cardiovascular outcomes of primary aldosteronism.

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