{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T21:47:21Z","timestamp":1776980841992,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,6,21]],"date-time":"2016-06-21T00:00:00Z","timestamp":1466467200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Liddle syndrome (LS) is a familial disease characterized by early onset hypertension (HT). Although regarded as rare, its incidence may be greater than expected because the classical findings of hypokalemic metabolic alkalosis with suppressed renin and aldosterone levels are not consistently present. Herein, we present the case of an adolescent boy and maternal relatives who were followed up with misdiagnosis of essential HT for a long duration. Clinical diagnosis of LS was confirmed on genetic analysis. Despite carrying the same mutation, the index patient and the family members manifested heterogeneous phenotypes of the disease including age at presentation, degree of HT, presence of hypokalemia and renal\/cardiac complications. LS should be considered in the differential diagnosis of HT in children with a strong family history of HT resistant to conventional treatment; and genetic screening should be performed in these circumstances.<\/jats:p>","DOI":"10.1111\/ped.12985","type":"journal-article","created":{"date-parts":[[2016,6,21]],"date-time":"2016-06-21T06:48:23Z","timestamp":1466491703000},"page":"801-804","source":"Crossref","is-referenced-by-count":12,"title":["Liddle syndrome in a Turkish family with heterogeneous phenotypes"],"prefix":"10.1111","volume":"58","author":[{"given":"Bahar","family":"B\u00fcy\u00fckkarag\u00f6z","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology Keci\u00f6ren Research and Training Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysun Caltik","family":"Yilmaz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Keci\u00f6ren Research and Training Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deniz","family":"Karcaaltincaba","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osman","family":"Ozdemir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Keci\u00f6ren Research and Training Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Ludwig","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry and Clinical Pharmacology University of Bonn  Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,6,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2013.09.011"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-012-0951-1"},{"key":"e_1_2_6_4_1","first-page":"1401","article-title":"Genetic diagnosis of Liddle's syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family","volume":"125","author":"Wang LP","year":"2012","journal-title":"Chin. 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