{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T06:02:37Z","timestamp":1790056957187,"version":"4.0.1"},"reference-count":100,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2015,8,1]],"date-time":"2015-08-01T00:00:00Z","timestamp":1438387200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,8,1]],"date-time":"2015-08-01T00:00:00Z","timestamp":1438387200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice & Research Clinical Endocrinology & Metabolism"],"published-print":{"date-parts":[[2015,8]]},"DOI":"10.1016\/j.beem.2015.04.010","type":"journal-article","created":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T12:56:42Z","timestamp":1430830602000},"page":"633-645","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":36,"title":["Inherited forms of mineralocorticoid hypertension"],"prefix":"10.1016","volume":"29","author":[{"given":"Maria-Christina","family":"Zennaro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheerazed","family":"Boulkroun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Fernandes-Rosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.beem.2015.04.010_bib1","doi-asserted-by":"crossref","first-page":"R15","DOI":"10.1530\/EJE-12-0813","article-title":"Genetics in endocrinology: genetics of mineralocorticoid excess: an update for clinicians","volume":"169","author":"Zennaro","year":"2013","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2015.04.010_bib2","doi-asserted-by":"crossref","first-page":"F1028","DOI":"10.1152\/ajprenal.0148.2001","article-title":"Localization of thiazide-sensitive Na(+)-Cl(\u2212) cotransport and associated gene products in mouse DCT","volume":"281","author":"Campean","year":"2001","journal-title":"Am J Physiol Ren Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib3","doi-asserted-by":"crossref","first-page":"F1021","DOI":"10.1152\/ajprenal.0085.2001","article-title":"Distribution of transcellular calcium and sodium transport pathways along mouse distal nephron","volume":"281","author":"Loffing","year":"2001","journal-title":"Am J Physiol Ren Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib4","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/S0092-8674(00)80726-6","article-title":"A\u00a0unified nomenclature system for the nuclear receptor superfamily","volume":"97","author":"Nuclear Receptors Nomenclature C","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.beem.2015.04.010_bib5","doi-asserted-by":"crossref","first-page":"F559","DOI":"10.1152\/ajprenal.00320.2001","article-title":"New ideas about aldosterone signaling in epithelia","volume":"282","author":"Stockand","year":"2002","journal-title":"Am J Physiol Ren Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib6","doi-asserted-by":"crossref","first-page":"F714","DOI":"10.1152\/ajprenal.00061.2006","article-title":"Disinhibitory pathways for control of sodium transport: regulation of ENaC by SGK1 and GILZ","volume":"291","author":"Bhalla","year":"2006","journal-title":"Am J Physiol Ren Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib7","doi-asserted-by":"crossref","first-page":"39970","DOI":"10.1074\/jbc.M508658200","article-title":"A\u00a0novel role for glucocorticoid-induced leucine zipper protein in epithelial sodium channel-mediated sodium transport","volume":"280","author":"Soundararajan","year":"2005","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.beem.2015.04.010_bib8","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1038\/sj.ki.5002737","article-title":"Early transcriptional control of ENaC (de)ubiquitylation by aldosterone","volume":"73","author":"Verrey","year":"2008","journal-title":"Kidney Int"},{"key":"10.1016\/j.beem.2015.04.010_bib9","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1097\/MNH.0b013e32833c34ec","article-title":"Regulation and function of potassium channels in aldosterone-sensitive distal nephron","volume":"19","author":"Wang","year":"2010","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"10.1016\/j.beem.2015.04.010_bib10","doi-asserted-by":"crossref","first-page":"4025","DOI":"10.1073\/pnas.0611728104","article-title":"An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis","volume":"104","author":"Ring","year":"2007","journal-title":"Proc Natl Acad Sci U. S. A"},{"key":"10.1016\/j.beem.2015.04.010_bib11","doi-asserted-by":"crossref","first-page":"R4","DOI":"10.1152\/ajpregu.00369.2004","article-title":"Role of Sgk1 in salt and potassium homeostasis","volume":"288","author":"Vallon","year":"2005","journal-title":"Am J Physiol Regul Integr Comp Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib12","doi-asserted-by":"crossref","first-page":"p1","DOI":"10.1159\/000090217","article-title":"Renal acid-base transport: old and new players","volume":"103","author":"Wagner","year":"2006","journal-title":"Nephron Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib13","doi-asserted-by":"crossref","first-page":"F740","DOI":"10.1152\/ajprenal.00380.2004","article-title":"Activation of dopamine D1-like receptors induces acute internalization of the renal Na+\/phosphate cotransporter NaPi-IIa in mouse kidney and OK cells","volume":"288","author":"Bacic","year":"2005","journal-title":"Am J Physiol Ren Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib14","doi-asserted-by":"crossref","first-page":"2636","DOI":"10.1073\/pnas.0307321101","article-title":"Nongenomic stimulation of vacuolar H+-ATPases in intercalated renal tubule cells by aldosterone","volume":"101","author":"Winter","year":"2004","journal-title":"Proc Natl Acad Sci U. S. A"},{"key":"10.1016\/j.beem.2015.04.010_bib15","doi-asserted-by":"crossref","first-page":"F628","DOI":"10.1152\/ajprenal.00217.2002","article-title":"Sodium and calcium transport pathways along the mammalian distal nephron: from rabbit to human","volume":"284","author":"Loffing","year":"2003","journal-title":"Am J Physiol Ren Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib16","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1681\/ASN.V981347","article-title":"11Beta-hydroxysteroid dehydrogenase, mineralocorticoid receptor, and thiazide-sensitive Na\u2013Cl cotransporter expression by distal tubules","volume":"9","author":"Bostanjoglo","year":"1998","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.beem.2015.04.010_bib17","doi-asserted-by":"crossref","first-page":"F181","DOI":"10.1152\/ajprenal.2001.280.2.F181","article-title":"Multiple aspects of mineralocorticoid selectivity","volume":"280","author":"Farman","year":"2001","journal-title":"Am J Physiol Ren Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1677\/joe.1.06017","article-title":"The new biology of aldosterone","volume":"186","author":"Connell","year":"2005","journal-title":"J\u00a0Endocrinol"},{"key":"10.1016\/j.beem.2015.04.010_bib19","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1152\/physrev.00030.2003","article-title":"Control of aldosterone secretion: a model for convergence in cellular signaling pathways","volume":"84","author":"Spat","year":"2004","journal-title":"Physiol Rev"},{"key":"10.1016\/j.beem.2015.04.010_bib20","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1161\/01.HYP.0000258554.87444.91","article-title":"Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample","volume":"49","author":"Newton-Cheh","year":"2007","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2015.04.010_bib21","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1056\/NEJMoa033263","article-title":"Serum aldosterone and the incidence of hypertension in nonhypertensive persons","volume":"351","author":"Vasan","year":"2004","journal-title":"N.\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2015.04.010_bib22","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1038\/jhh.2008.27","article-title":"High plasma aldosterone and low renin predict blood pressure increase and hypertension in middle-aged Caucasian populations","volume":"22","author":"Meneton","year":"2008","journal-title":"J\u00a0Hum Hypertens"},{"key":"10.1016\/j.beem.2015.04.010_bib23","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1055\/s-0031-1295438","article-title":"Prevalence of primary aldosteronism in patient's cohorts and in population-based studies\u2013a review of the current literature","volume":"44","author":"Hannemann","year":"2012","journal-title":"Horm Metab Res"},{"key":"10.1016\/j.beem.2015.04.010_bib24","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1161\/01.HYP.0000040261.30455.B6","article-title":"Hyperaldosteronism among black and white subjects with resistant hypertension","volume":"40","author":"Calhoun","year":"2002","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2015.04.010_bib25","first-page":"1109","article-title":"Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone","volume":"95","author":"Sutherland","year":"1966","journal-title":"Can Med Assoc J"},{"key":"10.1016\/j.beem.2015.04.010_bib26","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1210\/edrv-1-4-421","article-title":"Hypertension of childhood with suppressed renin","volume":"1","author":"New","year":"1980","journal-title":"Endocr Rev"},{"key":"10.1016\/j.beem.2015.04.010_bib27","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1161\/HYPERTENSIONAHA.110.168740","article-title":"Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation","volume":"57","author":"Aglony","year":"2011","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2015.04.010_bib28","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/355262a0","article-title":"A\u00a0chimaeric 11beta-hydroxylase aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension","volume":"355","author":"Lifton","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.beem.2015.04.010_bib29","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1097\/00004872-200018090-00002","article-title":"Primary aldosteronism: learning from the study of familial varieties","volume":"18","author":"Stowasser","year":"2000","journal-title":"J\u00a0Hypertens"},{"key":"10.1016\/j.beem.2015.04.010_bib30","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1749-6632.2002.tb04414.x","article-title":"New genetic insights in familial hyperaldosteronism","volume":"970","author":"Jackson","year":"2002","journal-title":"Ann N. Y Acad Sci"},{"key":"10.1016\/j.beem.2015.04.010_bib31","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/sj.jhh.1001821","article-title":"Glucocorticoid remediable aldosteronism (GRA) screening in hypertensive patients from a primary care setting","volume":"19","author":"Pizzolo","year":"2005","journal-title":"J\u00a0Hum Hypertens"},{"key":"10.1016\/j.beem.2015.04.010_bib32","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1161\/HYPERTENSIONAHA.111.175083","article-title":"Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (primary aldosteronism in TOrino-GENetic forms)","volume":"58","author":"Mulatero","year":"2011","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2015.04.010_bib33","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/0039-128X(94)00010-A","article-title":"Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis","volume":"60","author":"Dluhy","year":"1995","journal-title":"Steroids"},{"key":"10.1016\/j.beem.2015.04.010_bib34","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1161\/01.HYP.31.1.445","article-title":"Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism","volume":"31","author":"Litchfield","year":"1998","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2015.04.010_bib35","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/sj.jhh.1001152","article-title":"Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population?","volume":"15","author":"Gates","year":"2001","journal-title":"J\u00a0Hum Hypertens"},{"key":"10.1016\/j.beem.2015.04.010_bib36","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: an endocrine society clinical practice guideline","volume":"93","author":"Funder","year":"2008","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib37","doi-asserted-by":"crossref","first-page":"4805","DOI":"10.1210\/jcem.86.10.7920","article-title":"Genetic study of patients with dexamethasone-suppressible aldosteronism without the chimeric CYP11B1\/CYP11B2 gene","volume":"86","author":"Fardella","year":"2001","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib38","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.1210\/jcem.85.9.6834","article-title":"Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension","volume":"85","author":"Stowasser","year":"2000","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib39","doi-asserted-by":"crossref","first-page":"5070","DOI":"10.1210\/jc.2005-0681","article-title":"Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I","volume":"90","author":"Stowasser","year":"2005","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib40","doi-asserted-by":"crossref","first-page":"e31","DOI":"10.1161\/HYPERTENSIONAHA.108.128512","article-title":"Elevated serum interleukin 6 levels in normotensive individuals with familial hyperaldosteronism type 1","volume":"53","author":"Staermose","year":"2009","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2015.04.010_bib41","doi-asserted-by":"crossref","first-page":"3623","DOI":"10.1210\/jc.2009-1399","article-title":"Update in primary aldosteronism","volume":"94","author":"Stowasser","year":"2009","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib42","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1111\/j.1440-1681.1991.tb01446.x","article-title":"Clinical and pathological diversity of primary aldosteronism, including a new familial variety","volume":"18","author":"Gordon","year":"1991","journal-title":"Clin Exp Pharmacol Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib43","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/S0960-0760(01)00097-8","article-title":"Familial hyperaldosteronism","volume":"78","author":"Stowasser","year":"2001","journal-title":"J\u00a0Steroid Biochem Mol Biol"},{"key":"10.1016\/j.beem.2015.04.010_bib44","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/S0003-4266(05)81756-1","article-title":"Familial aspect of primary hyperaldosteronism: analysis of families compatible with primary hyperaldosteronism type 2","volume":"66","author":"Medeau","year":"2005","journal-title":"Ann Endocrinol Paris"},{"key":"10.1016\/j.beem.2015.04.010_bib45","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1055\/s-0031-1299730","article-title":"The prevalence of familial hyperaldosteronism in apparently sporadic primary aldosteronism in Germany: a single center experience","volume":"44","author":"Pallauf","year":"2012","journal-title":"Horm Metab Res"},{"key":"10.1016\/j.beem.2015.04.010_bib46","first-page":"1","article-title":"Familial aspects of primary aldosteronism: investigation of possible FH-2 families","volume":"66","author":"Medeau","year":"2005","journal-title":"Ann Endocrinol"},{"key":"10.1016\/j.beem.2015.04.010_bib47","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1136\/jmg.37.11.831","article-title":"A\u00a0novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)","volume":"37","author":"Lafferty","year":"2000","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.beem.2015.04.010_bib48","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1097\/01.hjh.0000174299.66369.26","article-title":"Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity","volume":"23","author":"So","year":"2005","journal-title":"J\u00a0Hypertens"},{"key":"10.1016\/j.beem.2015.04.010_bib49","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1097\/HJH.0b013e3283028352","article-title":"Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families","volume":"26","author":"Sukor","year":"2008","journal-title":"J\u00a0Hypertens"},{"key":"10.1016\/j.beem.2015.04.010_bib50","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1111\/j.1365-2265.2006.02674.x","article-title":"No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II","volume":"65","author":"So","year":"2006","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.beem.2015.04.010_bib51","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1111\/j.1440-1681.2008.04882.x","article-title":"Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II","volume":"35","author":"Jeske","year":"2008","journal-title":"Clin Exp Pharmacol Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib52","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1111\/j.1440-1681.1996.tb02787.x","article-title":"PCR-SSCP analysis of the promoter region of the renin gene in patients with aldosterone-producing adenomas","volume":"23","author":"Ballantine","year":"1996","journal-title":"Clin Exp Pharmacol Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib53","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1111\/j.1440-1681.1996.tb02786.x","article-title":"PCR-SSCP analysis of the p53 gene in tumours of the adrenal gland","volume":"23","author":"Ballantine","year":"1996","journal-title":"Clin Exp Pharmacol Physiol"},{"key":"10.1016\/j.beem.2015.04.010_bib54","first-page":"611","article-title":"Somatic mutations of the angiotensin II (AT1) receptor gene are not present in aldosterone-producing adenoma","volume":"82","author":"Davies","year":"1997","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib55","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1161\/HYPERTENSIONAHA.111.183996","article-title":"KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism","volume":"59","author":"Mulatero","year":"2012","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2015.04.010_bib56","doi-asserted-by":"crossref","first-page":"3117","DOI":"10.1210\/jc.2008-0594","article-title":"A\u00a0novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism","volume":"93","author":"Geller","year":"2008","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib57","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1126\/science.1198785","article-title":"K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension","volume":"331","author":"Choi","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.beem.2015.04.010_bib58","doi-asserted-by":"crossref","first-page":"4328","DOI":"10.1210\/en.2012-1241","article-title":"The potassium channel, Kir3.4 participates in angiotensin II-stimulated aldosterone production by a human adrenocortical cell line","volume":"153","author":"Oki","year":"2012","journal-title":"Endocrinology"},{"key":"10.1016\/j.beem.2015.04.010_bib59","doi-asserted-by":"crossref","first-page":"2533","DOI":"10.1073\/pnas.1121407109","article-title":"Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5","volume":"109","author":"Scholl","year":"2012","journal-title":"Proc Natl Acad Sci U. S. A"},{"key":"10.1016\/j.beem.2015.04.010_bib60","doi-asserted-by":"crossref","first-page":"E1532","DOI":"10.1210\/jc.2012-1334","article-title":"A\u00a0novel Point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension","volume":"97","author":"Charmandari","year":"2012","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib61","doi-asserted-by":"crossref","first-page":"E1861","DOI":"10.1210\/jc.2013-2428","article-title":"A\u00a0Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III","volume":"98","author":"Monticone","year":"2013","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib62","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1159\/000358197","article-title":"Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature","volume":"82","author":"Adachi","year":"2014","journal-title":"Hormone Res Paediatr"},{"key":"10.1016\/j.beem.2015.04.010_bib63","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1126\/science.289.5476.119","article-title":"Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy [see comments]","volume":"289","author":"Geller","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.beem.2015.04.010_bib64","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1210\/en.2002-220708","article-title":"The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related","volume":"144","author":"Rafestin-Oblin","year":"2003","journal-title":"Endocrinology"},{"key":"10.1016\/j.beem.2015.04.010_bib65","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1038\/jhh.2010.58","article-title":"Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid receptor (S810L) polymorphisms with gestational hypertension","volume":"25","author":"Ramirez-Salazar","year":"2011","journal-title":"J\u00a0Hum Hypertens"},{"key":"10.1016\/j.beem.2015.04.010_bib66","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1126\/science.1062844","article-title":"Human hypertension caused by mutations in WNK kinases","volume":"293","author":"Wilson","year":"2001","journal-title":"Science"},{"key":"10.1016\/j.beem.2015.04.010_bib67","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/nature10814","article-title":"Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities","volume":"482","author":"Boyden","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.beem.2015.04.010_bib68","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1038\/ng.2218","article-title":"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron","volume":"44","author":"Louis-Dit-Picard","year":"2012","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2015.04.010_bib69","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1038\/sj.emboj.7600186","article-title":"Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family","volume":"23","author":"Pintard","year":"2004","journal-title":"EMBO J"},{"key":"10.1016\/j.beem.2015.04.010_bib70","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1097\/MNH.0b013e32834d2fde","article-title":"Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations","volume":"21","author":"Bergaya","year":"2012","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"10.1016\/j.beem.2015.04.010_bib71","doi-asserted-by":"crossref","first-page":"7838","DOI":"10.1073\/pnas.1304592110","article-title":"Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4","volume":"110","author":"Shibata","year":"2013","journal-title":"Proc Natl Acad Sci U. S. A"},{"key":"10.1016\/j.beem.2015.04.010_bib72","doi-asserted-by":"crossref","first-page":"4723","DOI":"10.1172\/JCI76126","article-title":"Hyperkalemic hypertension-associated cullin 3 promotes WNK signaling by degrading KLHL3","volume":"124","author":"McCormick","year":"2014","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.beem.2015.04.010_bib73","doi-asserted-by":"crossref","first-page":"3248","DOI":"10.1210\/jcem.87.7.8449","article-title":"Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density","volume":"87","author":"Mayan","year":"2002","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib74","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1542\/peds.69.3.317","article-title":"Severe hypertension, hyperkalemia, and renal tubular acidosis responding to dietary sodium restriction","volume":"69","author":"Sanjad","year":"1982","journal-title":"Pediatrics"},{"key":"10.1016\/j.beem.2015.04.010_bib75","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1210\/jcem-44-5-924","article-title":"Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension","volume":"44","author":"New","year":"1977","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib76","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1210\/jcem-49-5-757","article-title":"A\u00a0syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol","volume":"49","author":"Ulick","year":"1979","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib77","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.tem.2005.02.011","article-title":"Monogenic low renin hypertension","volume":"16","author":"New","year":"2005","journal-title":"Trends Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib78","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1161\/01.HYP.34.4.638","article-title":"Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess","volume":"34","author":"Nunez","year":"1999","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2015.04.010_bib79","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/S0140-6736(87)91014-2","article-title":"Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age","volume":"2","author":"Stewart","year":"1987","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2015.04.010_bib80","first-page":"2244","article-title":"Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess","volume":"83","author":"Dave-Sharma","year":"1998","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib81","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1097\/MED.0b013e3283469444","article-title":"Inherited forms of mineralocorticoid hypertension","volume":"18","author":"Hassan-Smith","year":"2011","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"key":"10.1016\/j.beem.2015.04.010_bib82","first-page":"e151","article-title":"Apparent mineralocorticoid excess caused by a novel mutation in 11-beta hydroxysteroid dehydrogenase type 2 enzyme: its genetics and response to therapy","volume":"20","author":"Alzahrani","year":"2014","journal-title":"Endocr Pract \u2013 Off J Am Coll Endocrinol Am Assoc Clin Endocrinol"},{"key":"10.1016\/j.beem.2015.04.010_bib83","doi-asserted-by":"crossref","first-page":"1787","DOI":"10.1056\/NEJM199812103392414","article-title":"Cure of apparent mineralocorticoid excess by kidney transplantation","volume":"339","author":"Palermo","year":"1998","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2015.04.010_bib84","first-page":"17","article-title":"Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood","volume":"27","author":"Khattab","year":"2014","journal-title":"J\u00a0Pediatr Endocrinol Metab \u2013 JPEM"},{"key":"10.1016\/j.beem.2015.04.010_bib85","first-page":"199","article-title":"A\u00a0familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion","volume":"76","author":"Liddle","year":"1963","journal-title":"Trans Assoc Am Phys"},{"key":"10.1016\/j.beem.2015.04.010_bib86","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1056\/NEJM199401203300305","article-title":"Brief report: Liddle's syndrome revisited\u2013a disorder of sodium reabsorption in the distal tubule","volume":"330","author":"Botero-Velez","year":"1994","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2015.04.010_bib87","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/0092-8674(94)90250-X","article-title":"Liddle's syndrome: heritable human hypertension caused by mutations in the \u03b2 subunit of the epithelial sodium channel","volume":"79","author":"Schimkets","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.beem.2015.04.010_bib88","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/ng0995-76","article-title":"Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome","volume":"11","author":"Hansson","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2015.04.010_bib89","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.cca.2014.05.015","article-title":"Molecular genetics of Liddle's syndrome","volume":"436","author":"Yang","year":"2014","journal-title":"Clin Chim Acta \u2013 Int J Clin Chem"},{"key":"10.1016\/j.beem.2015.04.010_bib90","doi-asserted-by":"crossref","first-page":"2805","DOI":"10.1073\/pnas.0511184103","article-title":"Liddle's syndrome mutations increase Na+ transport through dual effects on epithelial Na+ channel surface expression and proteolytic cleavage","volume":"103","author":"Knight","year":"2006","journal-title":"Proc Natl Acad Sci U. S. A"},{"key":"10.1016\/j.beem.2015.04.010_bib91","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1172\/JCI5713","article-title":"Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome","volume":"103","author":"Abriel","year":"1999","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.beem.2015.04.010_bib92","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.tem.2008.01.002","article-title":"Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia","volume":"19","author":"Nimkarn","year":"2008","journal-title":"Trends Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib93","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1210\/jcem-56-2-222","article-title":"Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients","volume":"56","author":"Zachmann","year":"1983","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2015.04.010_bib94","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1093\/hmg\/6.11.1829","article-title":"CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency","volume":"6","author":"Joehrer","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.beem.2015.04.010_bib95","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/BF00442149","article-title":"Hypertension in a neonate with 11 beta-hydroxylase deficiency","volume":"143","author":"Mimouni","year":"1985","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.beem.2015.04.010_bib96","first-page":"421","article-title":"Disorders of steroid 11 beta-hydroxylase isozymes","volume":"15","author":"White","year":"1994","journal-title":"Endocr Rev"},{"key":"10.1016\/j.beem.2015.04.010_bib97","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1159\/000179494","article-title":"Clinical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency","volume":"16","author":"Rosler","year":"1982","journal-title":"Horm Res"},{"key":"10.1016\/j.beem.2015.04.010_bib98","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1210\/edrv-12-1-91","article-title":"17 alpha-hydroxylase\/17,20-lyase deficiency: from clinical investigation to molecular definition","volume":"12","author":"Yanase","year":"1991","journal-title":"Endocr Rev"},{"key":"10.1016\/j.beem.2015.04.010_bib99","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/S0889-8529(08)70021-5","article-title":"The genetics, pathophysiology, and management of human deficiencies of P450c17","volume":"30","author":"Auchus","year":"2001","journal-title":"Endocrinol Metab Clin North Am"},{"key":"10.1016\/j.beem.2015.04.010_bib100","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/0303-7207(88)90110-4","article-title":"Combined 17 alpha-hydroxylase\/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450","volume":"59","author":"Yanase","year":"1988","journal-title":"Mol Cell Endocrinol"}],"container-title":["Best Practice & Research Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X15000330?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X15000330?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:50:18Z","timestamp":1761497418000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X15000330"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8]]},"references-count":100,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["S1521690X15000330"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2015.04.010","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Inherited forms of mineralocorticoid hypertension","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.beem.2015.04.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}