{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T03:54:04Z","timestamp":1792814044880,"version":"4.5.0"},"reference-count":92,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2018,3,11]],"date-time":"2018-03-11T00:00:00Z","timestamp":1520726400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A, SCNN1B and SCNN1G genes, encoding the \u03b1, \u03b2, and \u03b3-subunits of the epithelial Na+ channel (ENaC), respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The majority of the substitutions cause an increased expression of the channel at the distal nephron apical membrane, with subsequent enhanced renal sodium reabsorption. The most common clinical presentation of the disease is early onset hypertension, hypokalemia, metabolic alkalosis, suppressed plasma renin activity and low plasma aldosterone. Consequently, treatment of Liddle syndrome is based on the administration of ENaC blockers, amiloride and triamterene. Herein, we discuss the genetic basis, clinical presentation, diagnosis and treatment of Liddle syndrome. Finally, we report a new case in an Italian family, caused by a SCNN1B p.Pro618Leu substitution.<\/jats:p>","DOI":"10.3390\/ijms19030812","type":"journal-article","created":{"date-parts":[[2018,3,12]],"date-time":"2018-03-12T13:13:48Z","timestamp":1520860428000},"page":"812","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":100,"title":["Liddle Syndrome: Review of the Literature and Description of a New Case"],"prefix":"10.3390","volume":"19","author":[{"given":"Martina","family":"Tetti","sequence":"first","affiliation":[{"name":"Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, Via Genova 3, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7322-2005","authenticated-orcid":false,"given":"Silvia","family":"Monticone","sequence":"additional","affiliation":[{"name":"Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, Via Genova 3, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacopo","family":"Burrello","sequence":"additional","affiliation":[{"name":"Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, Via Genova 3, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Matarazzo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Regina Margherita Children Hospital, Citt\u00e0 della Salute e della Scienza, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Veglio","sequence":"additional","affiliation":[{"name":"Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, Via Genova 3, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4373-1212","authenticated-orcid":false,"given":"Barbara","family":"Pasini","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, Department of Medical Sciences, University of Torino, Via Genova 3, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5925-381X","authenticated-orcid":false,"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[{"name":"INSERM U970, Paris Cardiovascular Research Center, 75015 Paris, France"},{"name":"Faculty of Medicine, University Paris Descartes, Paris Sorbonne Cit\u00e9, 75006 Paris, France"},{"name":"AP-HP, Department of Genetics, H\u00f4pital Europ\u00e9en Georges Pompidou, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5480-1116","authenticated-orcid":false,"given":"Paolo","family":"Mulatero","sequence":"additional","affiliation":[{"name":"Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, Via Genova 3, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2018,3,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2665","DOI":"10.1016\/S0140-6736(16)31134-5","article-title":"A call to action and a lifecourse strategy to address the global burden of raised blood pressure on current and future generations: The Lancet Commission on hypertension","volume":"388","author":"Olsen","year":"2016","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Burrello, J., Monticone, S., Buffolo, F., Tetti, M., Veglio, F., Williams, T.A., and Mulatero, P. 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