{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T06:20:52Z","timestamp":1782886852509,"version":"3.54.5"},"reference-count":28,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T00:00:00Z","timestamp":1604534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Hypokalemia and metabolic alkalosis can be present in different rare diseases, and the differential diagnosis of these forms is challenging. Apparent mineralcorticoid (AME) excess syndrome is one of these conditions. Characterized by increased blood pressure due to excessive sodium retention and plasma volume, it is caused by a mutation in the HSD11B2 gene encoding the oxydoreductase enzyme 11\u03b2-hydroxysteroide dehydrogenase type 2. We report the case of a child presenting with failure to thrive associated with early detection of hypokalemia, metabolic alkalosis, nephrocalcinosis and hypertension in which AME syndrome was detected. A novel mutation in the HSD11B2 gene was identified in this patient. In clinical pictures characterized by metabolic alkalosis and hypokalemia, the evaluation of renin, aldosterone and blood pressure is crucial for accurate diagnosis. AME syndrome is a rare disorder that can be an insidious but lethal disease, if untreated. With clinical signs appearing during the first days of life. Early diagnosis is imperative in order to enable prompt and adequate treatment to improve the outcome of these patients.<\/jats:p>","DOI":"10.3390\/children7110212","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T09:04:34Z","timestamp":1604567074000},"page":"212","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis"],"prefix":"10.3390","volume":"7","author":[{"given":"Cristina","family":"Bertulli","sequence":"first","affiliation":[{"name":"Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant\u2019Orsola-Malpighi, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marguerite","family":"Hureaux","sequence":"additional","affiliation":[{"name":"Assistance Publique H\u00f4pitaux de Paris, Department of Genetics, H\u00f4pital Europ\u00e9en Georges-Pompidou, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"De Mutiis","sequence":"additional","affiliation":[{"name":"Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant\u2019Orsola-Malpighi, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Pasini","sequence":"additional","affiliation":[{"name":"Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant\u2019Orsola-Malpighi, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5878-941X","authenticated-orcid":false,"given":"Detlef","family":"Bockenhauer","sequence":"additional","affiliation":[{"name":"Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK"},{"name":"Department of Renal Medicine, University College London, London WC1E 6BT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4169-0680","authenticated-orcid":false,"given":"Rosa","family":"Vargas-Poussou","sequence":"additional","affiliation":[{"name":"Assistance Publique H\u00f4pitaux de Paris, Department of Genetics, H\u00f4pital Europ\u00e9en Georges-Pompidou, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2644-7447","authenticated-orcid":false,"given":"Claudio","family":"La Scola","sequence":"additional","affiliation":[{"name":"Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant\u2019Orsola-Malpighi, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1111\/apa.13398","article-title":"Current views on the diagnosis and management of hypokalaemia in children","volume":"105","author":"Zieg","year":"2016","journal-title":"Acta Paediatr."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1053\/j.ajkd.2009.11.028","article-title":"An unusual case of metabolic alkalosis: A window into the pathophysiology and diagnosis of this common acid-base disturbance","volume":"55","author":"Gennari","year":"2010","journal-title":"Am. 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