Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
JCR Impact Factor (IF) – 1.727
Index Copernicus  – 166.39
MEiN – 70 pts

ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
Periodicity – monthly

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Advances in Clinical and Experimental Medicine

2018, vol. 27, nr 8, August, p. 1149–1158

doi: 10.17219/acem/69390

Publication type: review article

Language: English

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Genetic aspects of primary hyperaldosteronism

Weronika Korzyńska1,A,B,C,D, Anna Jodkowska1,A,C,D,E, Katarzyna Gosławska1,B, Katarzyna Bogunia-Kubik2,A,E,F, Grzegorz Mazur1,F

1 Department and Clinic of Internal and Occupational Diseases and Hypertension, Wroclaw Medical University, Poland

2 Laboratory of Clinical Immunogenetics and Pharmacogenetics, Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland

Abstract

Primary hyperaldosteronism (PHA) is the most common form of secondary hypertension of hormonal origin. It affects about 10% of all hypertensive patients. It is connected with increased morbidity and mortality from cardiovascular diseases (CVD) compared to patients with essential hypertension of a similar age. Usually, it is an effect of bilateral adrenal hyperplasia (BAH) or aldosterone-producing adenoma (APA), more rare causes of PHA are: unilateral adrenal hyperplasia, aldosterone-producing adrenocortical carcinoma, ectopic aldosterone-producing tumors and familial hyperaldosteronism. Recent genetic studies have thrown a new light on the pathogenesis of PHA, classifying it as a channelopathy. Several mutations within the ion channels encoding genes have been identified. A possible link between primary hyperaldosteronism and polymorphism of aldosterone synthase gene and ion channel genes is still being investigated. In this manuscript, we focus on genetic aspects of primary hyperaldosteronism, and present an up-to-date compilation of available data with the widened pathogenetic approach.

Key words

gene polymorphism, aldosterone, primary hyperaldosteronism, ion channels, angiotensine II

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