{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T04:42:08Z","timestamp":1782276128704,"version":"3.54.5"},"reference-count":63,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,3,8]],"date-time":"2021-03-08T00:00:00Z","timestamp":1615161600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"This study was funded by funds of the Division of Endocrinology and Metabolism, Biomedical Research Foundation of the Academy of Athens, Athens, Greece","award":["(internal funding)"],"award-info":[{"award-number":["(internal funding)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Primary aldosteronism (PA), a condition characterized by autonomous aldosterone hypersecretion, constitutes the most common cause of secondary hypertension. Over the last decade, major breakthroughs have been made in the field of genetics underpinning PA. The advent and wide application of Next Generation Sequencing (NGS) technology led to the identification of several somatic and germline mutations associated with sporadic and familial forms of PA. Somatic mutations in ion-channel genes that participate in aldosterone biosynthesis, including KCNJ5, CACNA1D, ATP1A1, and ATP2B3, have been implicated in the development of aldosterone-producing adenomas (APAs). On the other hand, germline variants in CLCN2, KCNJ5, CACNA1H, and CACNA1D genes have been implicated in the pathogenesis of the familial forms of PA, FH-II, FH-III, and F-IV, as well as PA associated with seizures and neurological abnormalities. However, recent studies have shown that the prevalence of PA is higher than previously thought, indicating the need for an improvement of our diagnostic tools. Further research is required to recognize mild forms of PA and to investigate the underlying molecular mechanisms.<\/jats:p>","DOI":"10.3390\/nu13030875","type":"journal-article","created":{"date-parts":[[2021,3,8]],"date-time":"2021-03-08T04:01:25Z","timestamp":1615176085000},"page":"875","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Unravelling the Genetic Basis of Primary Aldosteronism"],"prefix":"10.3390","volume":"13","author":[{"given":"Niki","family":"Mourtzi","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, \u201cAghia Sophia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amalia","family":"Sertedaki","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, \u201cAghia Sophia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athina","family":"Markou","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Center, G. Gennimatas General Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George P.","family":"Piaditis","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Center, G. Gennimatas General Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0851-6998","authenticated-orcid":false,"given":"Evangelia","family":"Charmandari","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, \u201cAghia Sophia\u201d Children\u2019s Hospital, 11527 Athens, Greece"},{"name":"Division of Endocrinology and Metabolism, Center of Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,3,8]]},"reference":[{"key":"ref_1","first-page":"613","article-title":"Selected major risk factors and global and regional burden of disease","volume":"21","author":"Ezzati","year":"2002","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S0140-6736(05)17741-1","article-title":"Global burden of hypertension: Analysis of worldwide data","volume":"365","author":"Kearney","year":"2005","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.2215\/CJN.01060306","article-title":"Aldosteronism and hypertension","volume":"1","author":"Calhoun","year":"2006","journal-title":"Clin. 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