{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T23:51:37Z","timestamp":1791157897835,"version":"4.1.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"vor","delay-in-days":88,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Endocr Disord"],"DOI":"10.1186\/s12902-026-02407-7","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T10:14:11Z","timestamp":1783592051000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Liddle syndrome caused by SCNN1B mutation presenting with severe early-onset hypertension and hypokalemia in an adolescent: a case report"],"prefix":"10.1186","volume":"26","author":[{"given":"Xiao","family":"Min","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,9]]},"reference":[{"key":"2407_CR1","first-page":"199","volume":"76","author":"GW Liddle","year":"1963","unstructured":"Liddle GW, Bledsoe T, Coppage WS Jr. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Physicians. 1963;76:199\u2013213.","journal-title":"Trans Assoc Am Physicians"},{"issue":"1","key":"2407_CR2","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1038\/ng0995-76","volume":"11","author":"JH Hansson","year":"1995","unstructured":"Hansson JH, Nelson-Williams C, Suzuki H, et al. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet. 1995;11(1):76\u201382. https:\/\/doi.org\/10.1038\/ng0995-76.","journal-title":"Nat Genet"},{"issue":"10","key":"2407_CR3","doi-asserted-by":"publisher","first-page":"1845","DOI":"10.1681\/ASN.2008020225","volume":"19","author":"V Bhalla","year":"2008","unstructured":"Bhalla V, Hallows KR. Mechanisms of ENaC regulation and clinical implications. J Am Soc Nephrol. 2008;19(10):1845\u201354. https:\/\/doi.org\/10.1681\/ASN.2008020225.","journal-title":"J Am Soc Nephrol"},{"issue":"10","key":"2407_CR4","doi-asserted-by":"publisher","first-page":"2371","DOI":"10.1002\/j.1460-2075.1996.tb00593.x","volume":"15","author":"O Staub","year":"1996","unstructured":"Staub O, Dho S, Henry P, Correa J, Ishikawa T, McGlade J, Rotin D. WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial sodium channel deleted in Liddle\u2019s syndrome. EMBO J. 1996;15(10):2371\u201380. PMID: 8665844.","journal-title":"EMBO J"},{"issue":"10","key":"2407_CR5","doi-asserted-by":"publisher","first-page":"2381","DOI":"10.1002\/j.1460-2075.1996.tb00594.x","volume":"15","author":"L Schild","year":"1996","unstructured":"Schild L, Lu Y, Gautschi I, et al. Identification of a PY motif in the epithelial sodium channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J. 1996;15(10):2381\u20137.","journal-title":"EMBO J"},{"issue":"2","key":"2407_CR6","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1111\/jch.13800","volume":"22","author":"KQ Yang","year":"2020","unstructured":"Yang KQ, Xiao Y, Tian T, et al. Clinical and genetic analysis of Liddle syndrome. J Clin Hypertens (Greenwich). 2020;22(2):178\u201384. https:\/\/doi.org\/10.1111\/jch.13800.","journal-title":"J Clin Hypertens (Greenwich)"},{"issue":"5","key":"2407_CR7","doi-asserted-by":"publisher","first-page":"1889","DOI":"10.1210\/jc.2015-4061","volume":"101","author":"JW Funder","year":"2016","unstructured":"Funder JW, Carey RM, Mantero F, et al. The management of primary aldosteronism: case detection, diagnosis, and treatment: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2016;101(5):1889\u2013916. https:\/\/doi.org\/10.1210\/jc.2015-4061.","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2407_CR8","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1097\/00000441-200112000-00003","volume":"322","author":"DG Warnock","year":"2001","unstructured":"Warnock DG. Liddle syndrome: genetics and mechanisms of Na+ channel defects. Am J Med Sci. 2001;322(6):302\u20137. https:\/\/doi.org\/10.1097\/00000441-200112000-00003.","journal-title":"Am J Med Sci"},{"key":"2407_CR9","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1146\/annurev.physiol.64.082101.143243","volume":"64","author":"BC Rossier","year":"2002","unstructured":"Rossier BC, Pradervand S, Schild L, Hummler E. Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors. Annu Rev Physiol. 2002;64:877\u201397. https:\/\/doi.org\/10.1146\/annurev.physiol.64.082101.143243.","journal-title":"Annu Rev Physiol"},{"issue":"11","key":"2407_CR10","doi-asserted-by":"publisher","first-page":"902","DOI":"10.1111\/jch.12598","volume":"17","author":"LP Wang","year":"2015","unstructured":"Wang LP, Yang KQ, Jiang XJ, et al. Prevalence of Liddle syndrome among young hypertension patients of undetermined cause in a Chinese population. J Clin Hypertens (Greenwich). 2015;17(11):902\u20139. https:\/\/doi.org\/10.1111\/jch.12598.","journal-title":"J Clin Hypertens (Greenwich)"},{"issue":"2","key":"2407_CR11","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1080\/10641963.2017.1334799","volume":"40","author":"KQ Yang","year":"2018","unstructured":"Yang KQ, Lu CX, Fan P, et al. Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome. Clin Exp Hypertens. 2018;40(2):107\u201311. PMID: 28718682.","journal-title":"Clin Exp Hypertens"},{"issue":"3","key":"2407_CR12","doi-asserted-by":"publisher","first-page":"812","DOI":"10.3390\/ijms19030812","volume":"19","author":"M Tetti","year":"2018","unstructured":"Tetti M, Monticone S, Burrello J, et al. Liddle syndrome: review of the literature and description of a new case. Int J Mol Sci. 2018;19(3):812. https:\/\/doi.org\/10.3390\/ijms19030812.","journal-title":"Int J Mol Sci"},{"issue":"5","key":"2407_CR13","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1111\/jch.12949","volume":"19","author":"Y Cui","year":"2017","unstructured":"Cui Y, Tong A, Jiang J, et al. Liddle syndrome: clinical and genetic profiles. J Clin Hypertens (Greenwich). 2017;19(5):524\u20139. https:\/\/doi.org\/10.1111\/jch.12949.","journal-title":"J Clin Hypertens (Greenwich)"},{"key":"2407_CR14","doi-asserted-by":"publisher","unstructured":"Tang Q, Zhou Y, Liu L, et al. Liddle syndrome with a SCNN1B mutation: a case report and systematic review. BMC Nephrol. 2025;26(1):408. https:\/\/doi.org\/10.1186\/s12882-025-04252-7. PMID: 40696293.","DOI":"10.1186\/s12882-025-04252-7"},{"issue":"12","key":"2407_CR15","doi-asserted-by":"publisher","first-page":"1528","DOI":"10.1530\/EC-18-0484","volume":"7","author":"P Fan","year":"2018","unstructured":"Fan P, Lu CX, Zhang D, et al. Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B. Endocr Connect. 2018;7(12):1528\u201334. PMID: 30496127.","journal-title":"Endocr Connect"}],"container-title":["BMC Endocrine Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12902-026-02407-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12902-026-02407-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12902-026-02407-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T23:07:25Z","timestamp":1791155245000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s12902-026-02407-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,9]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["2407"],"URL":"https:\/\/doi.org\/10.1186\/s12902-026-02407-7","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-9222506\/v1","asserted-by":"object"}]},"ISSN":["1472-6823"],"issn-type":[{"value":"1472-6823","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,9]]},"assertion":[{"value":"25 March 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 July 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This case report was conducted in accordance with the Declaration of Helsinki. Written informed consent to participate was obtained from the patient and his legal guardian prior to any data collection. Ethical approval was waived by the Ethics Committee of Shaoshan People\u2019s Hospital, as this report involves a single patient with no experimental intervention beyond routine clinical care.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent for publication of clinical details, laboratory data, imaging findings, and genetic information was obtained from the patient and his legal guardian prior to submission.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"302"}}