{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T22:16:12Z","timestamp":1777500972806,"version":"3.51.4"},"reference-count":8,"publisher":"Scientific Scholar","content-domain":{"domain":["indianjnephrol.org"],"crossmark-restriction":true},"short-container-title":["IJN"],"abstract":"<jats:p>A 3-year-old boy presented with polyuria and polydipsia for 18 months, along with growth failure. He was born prematurely, at 34 weeks of gestation, with a low birth weight. On examination, the child was severely underweight and hypertensive. Clinical history and evaluation could not identify any secondary causes of hypertension. There was no significant family history. An endocrine workup was planned, considering hypokalemia and metabolic alkalosis. This demonstrated hyporeninemic hypoaldosteronism and raised the possibility of apparent mineralocorticoid excess (AME) and Liddle syndrome. Clinical exome sequence analysis of <jats:italic>HSD11B2<\/jats:italic> revealed a homozygous mutation in exon 5 (911A&gt;G; p.His304Arg), which resulted in a missense mutation that confirmed the diagnosis of AME. A novel homozygous variant was found in the <jats:italic>HSD11B2<\/jats:italic> gene in a subject with early onset hypertension associated with hypokalemic metabolic alkalosis, establishing the diagnosis of AME.<\/jats:p>","DOI":"10.25259\/ijn_83_2024","type":"journal-article","created":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T05:52:11Z","timestamp":1716011531000},"page":"427-428","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Rare Case of Apparent Mineralocorticoid Excess Presenting as Endocrine Hypertension"],"prefix":"10.25259","volume":"35","author":[{"given":"Vishnu","family":"Vijayakumar","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Nephrology, Institute of Medical Sciences-Banaras Hindu University (IMS-BHU), Varanasi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nitish","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Nephrology, Institute of Medical Sciences-Banaras Hindu University (IMS-BHU), Varanasi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Devesh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Nephrology, Institute of Medical Sciences-Banaras Hindu University (IMS-BHU), Varanasi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abhishek","family":"Abhinay","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Nephrology, Institute of Medical Sciences-Banaras Hindu University (IMS-BHU), Varanasi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankur","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Nephrology, Institute of Medical Sciences-Banaras Hindu University (IMS-BHU), Varanasi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajniti","family":"Prasad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Nephrology, Institute of Medical Sciences-Banaras Hindu University (IMS-BHU), Varanasi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2024,5,18]]},"reference":[{"key":"10.25259\/IJN_83_2024\/ref-1","article-title":"Overview of endocrine hypertension","author":"Koch","year":"2020","journal-title":"Endotext"},{"key":"10.25259\/IJN_83_2024\/ref-2","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1590\/s0004-27302004000500015","article-title":"Apparent mineralocorticoid excess syndrome: An overview","volume":"48","author":"Palermo","year":"2004","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"10.25259\/IJN_83_2024\/ref-3","first-page":"385","article-title":"Unusual steroid excretion in a child with low renin hypertension","volume":"6","author":"Werder","year":"1974","journal-title":"Res Steroids"},{"key":"10.25259\/IJN_83_2024\/ref-4","doi-asserted-by":"publisher","first-page":"e1610","DOI":"10.1542\/peds.2010-1928","article-title":"Apparent mineralocorticoid excess: Time of manifestation and complications despite treatment","volume":"127.6","author":"Knops","year":"2011","journal-title":"Pediatrics"},{"key":"10.25259\/IJN_83_2024\/ref-5","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1161\/01.HYP.0000196945.73586.0d","article-title":"Mineralocorticoid receptor activation causes cerebral vessel remodelling and exacerbates the damage caused by cerebral ischemia","volume":"47","author":"Dorrance","year":"2006","journal-title":"Hypertension"},{"key":"10.25259\/IJN_83_2024\/ref-6","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.1161\/01.hyp.33.5.1179","article-title":"11\u03b2-Hydroxysteroid dehydrogenase in cultured human vascular cells: Possible role in the development of hypertension","volume":"33","author":"Hatakeyama","year":"1999","journal-title":"Hypertension"},{"key":"10.25259\/IJN_83_2024\/ref-7","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/s0304-3940(00)01325-2","article-title":"Expression of mineralocorticoid and glucocorticoid receptor mRNA in the human hippocampus","volume":"290","author":"Watzka","year":"2000","journal-title":"Neurosci Lett"},{"key":"10.25259\/IJN_83_2024\/ref-8","doi-asserted-by":"publisher","first-page":"4155","DOI":"10.1210\/jc.2015-2673","article-title":"Glucocorticoid excess increases hepatic 11\u03b2-HSD-1 activity in humans: Implications in steroid-induced diabetes","volume":"100","author":"Dube","year":"2015","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Indian Journal of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/indianjnephrol.org\/a-rare-case-of-apparent-mineralocorticoid-excess-presenting-as-endocrine-hypertension\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/indianjnephrol.org\/a-rare-case-of-apparent-mineralocorticoid-excess-presenting-as-endocrine-hypertension\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T10:19:31Z","timestamp":1745576371000},"score":1,"resource":{"primary":{"URL":"https:\/\/indianjnephrol.org\/a-rare-case-of-apparent-mineralocorticoid-excess-presenting-as-endocrine-hypertension\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,18]]},"references-count":8,"alternative-id":["10.25259\/IJN_83_2024"],"URL":"https:\/\/doi.org\/10.25259\/ijn_83_2024","relation":{},"ISSN":["1998-3662","0971-4065"],"issn-type":[{"value":"1998-3662","type":"electronic"},{"value":"0971-4065","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5,18]]},"article-number":"427"}}