{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T21:39:10Z","timestamp":1783633150543,"version":"3.55.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,11,26]],"date-time":"2013-11-26T00:00:00Z","timestamp":1385424000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["ANZ Journal of Surgery"],"published-print":{"date-parts":[[2015,4]]},"abstract":"Abstract<\/jats:title>Introduction<\/jats:title>Primary hyperaldosteronism (PA<\/jats:styled-content>) is a common cause of secondary hypertension. Two recurrent mutations (G151R<\/jats:styled-content> and L168R<\/jats:styled-content>) in the potassium channel gene KCNJ5<\/jats:italic><\/jats:styled-content> have been identified that affect the K<\/jats:styled-content>ir3.4 potassium channel found in the cells of the zona glomerulosa of the adrenal gland. The aim of this study was to determine the prevalence of KCNJ5<\/jats:italic><\/jats:styled-content> mutations in an Australian cohort of patients and to correlate these findings with clinical outcome data, in order to describe the clinical impact on patients who harbour this mutation.<\/jats:p><\/jats:sec>Methods<\/jats:title>D<\/jats:styled-content>irect S<\/jats:styled-content>anger sequencing for KCNJ5<\/jats:italic><\/jats:styled-content> on DNA<\/jats:styled-content> from adrenal tumour tissue of 83 patients with PA<\/jats:styled-content> in a cohort study was undertaken and mutation status correlated with clinical outcome data.<\/jats:p><\/jats:sec>Results<\/jats:title>Seventy\u2010one of 83 patients (86%) had adrenocortical adenomas and 12 patients (14%) had bilateral adrenal hyperplasia. A total of 34 (41%) patients were found to have heterozygous somatic mutations in KCNJ5<\/jats:italic><\/jats:styled-content>, G151R<\/jats:styled-content> and L168R<\/jats:styled-content>. No germ line mutations were identified. Patients with mutations were predominately female (68% versus 49%) and significantly younger at presentation (48 versus 55 years). When correlated with clinical data, our results demonstrated that patients with KCNJ5<\/jats:italic><\/jats:styled-content> mutations were more likely to be cured following surgery without the requirement for ongoing medications.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Our findings in a large Australian cohort show that patients with mutations in KCNJ5<\/jats:italic><\/jats:styled-content> present earlier with the signs and symptoms of PA<\/jats:styled-content> benefit from surgical intervention. Moreover, our results highlight the importance of a thorough workup and management plan for younger patients who present with hypertension.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ans.12470","type":"journal-article","created":{"date-parts":[[2013,11,26]],"date-time":"2013-11-26T10:41:31Z","timestamp":1385462491000},"page":"279-283","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Mutations in KCNJ5<\/i><\/scp> determines presentation and likelihood of cure in primary hyperaldosteronism"],"prefix":"10.1111","volume":"85","author":[{"given":"Julian C. Y.","family":"Ip","sequence":"first","affiliation":[{"name":"Cancer Genetics Kolling Institute of Medical Research Royal North Shore Hospital Sydney New South Wales Australia"},{"name":"Faculty of Medicine Northern Clinical School The University of Sydney Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony C. Y.","family":"Pang","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Northern Clinical School The University of Sydney Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy K.","family":"Pon","sequence":"additional","affiliation":[{"name":"Cancer Genetics Kolling Institute of Medical Research Royal North Shore Hospital Sydney New South Wales Australia"},{"name":"Faculty of Medicine Northern Clinical School The University of Sydney Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing Ting","family":"Zhao","sequence":"additional","affiliation":[{"name":"Cancer Genetics Kolling Institute of Medical Research Royal North Shore Hospital Sydney New South Wales Australia"},{"name":"Faculty of Medicine Northern Clinical School The University of Sydney Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark S.","family":"Sywak","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Northern Clinical School The University of Sydney Sydney New South Wales Australia"},{"name":"Endocrine Surgical Unit Royal North Shore Hospital Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Gill","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Northern Clinical School The University of Sydney Sydney New South Wales Australia"},{"name":"Department of Anatomical Pathology Royal North Shore Hospital Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patsy S.","family":"Soon","sequence":"additional","affiliation":[{"name":"Cancer Genetics Kolling Institute of Medical Research Royal North Shore Hospital Sydney New South Wales Australia"},{"name":"Faculty of Medicine Northern Clinical School The University of Sydney Sydney New South Wales Australia"},{"name":"South Western Sydney Clinical School University of New South Wales Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stan B.","family":"Sidhu","sequence":"additional","affiliation":[{"name":"Cancer Genetics Kolling Institute of Medical Research Royal North Shore Hospital Sydney New South Wales Australia"},{"name":"Faculty of Medicine Northern Clinical School The University of Sydney Sydney New South Wales Australia"},{"name":"Endocrine Surgical Unit Royal North Shore Hospital Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60834-X"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.223"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.5.1863"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2007-0030"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tem.2005.02.010"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.HYP.0000230444.01215.6a"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00030.2003"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2003.10.046"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1198785"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/HYPERTENSIONAHA.111.186478"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/HYPERTENSIONAHA.111.183996"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0041926"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1121407109"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-2885"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1161\/HYPERTENSIONAHA.111.186239"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00423-013-1093-2"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2550"},{"key":"e_1_2_6_19_1","first-page":"426","article-title":"Advances in research on G Protein\u2010coupled inward rectifier K(+) channel gene","volume":"34","author":"Yong\u2010An K","year":"2012","journal-title":"Zhongguo Yi Xue Ke Xue Yuan Xue Bao."},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2011-1733"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2005.01.015"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-3132"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2013.01.018"},{"key":"e_1_2_6_24_1","first-page":"2203","article-title":"TASK channel deletion in mice causes primary hyperaldosteronism","volume":"105","author":"Davies LAL","year":"2008","journal-title":"CORD Conf. 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