{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:43:14Z","timestamp":1790419394176,"version":"4.1.0"},"reference-count":32,"publisher":"Georg Thieme Verlag KG","issue":"13","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Metab Res"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Familial forms of primary aldosteronism have been suggested to account for up to\n                    6% of cases in referral centers. For many years, the genetics of familial\n                    hyperaldosteronism remained unknown, with the notable exception of\n                    glucocorticoid-remediable aldosteronism, due to unequal crossing over and\n                    formation of a chimeric 11\u03b2-hydroxylase\/aldosterone synthase gene. Over the past\n                    5 years, mutations in 3 additional genes have been shown to cause familial forms\n                    of primary aldosteronism. Gain-of-function heterozygous germline mutations in\n                        KCNJ5, which encodes an inward rectifier potassium channel, cause\n                    autosomal dominant syndromes of PA and hypertension with or without adrenal\n                    hyperplasia. Germline mutations in CACNA1D, which codes for an L-type\n                    calcium channel, have so far only been found in 2 cases with a syndrome of\n                    primary aldosteronism, seizures, and neurologic abnormalities. Both KCNJ5\n                    and CACNA1D mutations in familial hyperaldosteronism were only discovered\n                    following identification of similar or identical somatic mutations in\n                    aldosterone-producing adenomas. In contrast, a recent exome sequencing study\n                    identified germline mutations in CACNA1H (a T-type calcium channel),\n                    previously undescribed in adenomas, in 5 unrelated families with early-onset\n                    primary aldosteronism and hypertension, without any additional shared symptoms.\n                    Future exome or genome sequencing studies are expected to shed light on the\n                    genetic basis of many cases of familial hyperaldosteronism that remain\n                    unexplained.<\/jats:p>","DOI":"10.1055\/s-0035-1564166","type":"journal-article","created":{"date-parts":[[2015,10,8]],"date-time":"2015-10-08T01:22:39Z","timestamp":1444267359000},"page":"941-946","source":"Crossref","is-referenced-by-count":49,"title":["An Update on Familial Hyperaldosteronism"],"prefix":"10.1055","volume":"47","author":[{"given":"H. E.","family":"Korah","sequence":"first","affiliation":[{"name":"Department of Nephrology, Medical School, Heinrich Heine University,\n                    University Hospital D\u00fcsseldorf, D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U. I.","family":"Scholl","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Medical School, Heinrich Heine University,\n                    University Hospital D\u00fcsseldorf, D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2015,10,7]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"2293","DOI":"10.1016\/j.jacc.2006.07.059","article-title":"A prospective study of the prevalence of primary aldosteronism in 1,125\n                    hypertensive patients","volume":"48","author":"G P Rossi","year":"2006","journal-title":"J Am Coll Cardiol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"3266","DOI":"10.1210\/jc.2008-0104","article-title":"Case detection, diagnosis, and treatment of patients with primary aldosteronism:\n                    an endocrine society clinical practice guideline","volume":"93","author":"J W 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