{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T22:47:38Z","timestamp":1772578058158,"version":"3.50.1"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,10,26]],"date-time":"2019-10-26T00:00:00Z","timestamp":1572048000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,10,26]],"date-time":"2019-10-26T00:00:00Z","timestamp":1572048000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fundamental Scientific Research Program of the Russian Academy of Sciences","award":["2013-2020"],"award-info":[{"award-number":["2013-2020"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n              <jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Liddle syndrome is a monogenic disease with autosomal dominant inheritance. Basic characteristics of this disease are hypertension, reduced concentration of aldosterone and renin activity, as well as increased excretion of potassium leading to low level of potassium in serum and metabolic alkalosis. The cause of Liddle syndrome is missense or frameshift mutations in <jats:italic>SCNN1A<\/jats:italic>, <jats:italic>SCNN1B<\/jats:italic>, or <jats:italic>SCNN1G<\/jats:italic> genes that encode epithelial sodium channel subunits.<\/jats:p>\n              <\/jats:sec>\n              <jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We describe a family with Liddle syndrome from Russia. 15-year-old proband has arterial hypertension, hypokalemia, hyporeninemia, metabolic alkalosis, but aldosterone level is within the normal range. At 12\u2009years of age, arterial hypertension was noticed for the first time. We identified novel frameshift mutation c.1769delG (p.Gly590Alafs) in <jats:italic>SCNN1G,<\/jats:italic> which encodes the <jats:bold>\u03b3<\/jats:bold> subunit of ENaC in vertebrates. The father and younger sister also harbor this heterozygous deletion. Treatment with amiloride of proband and his sister did not normalize the blood pressure, but normalized level of plasma renin activity.<\/jats:p>\n              <\/jats:sec>\n              <jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our results expand the mutational spectrum of Liddle syndrome and provide further proof that the conserved PY motif is crucial to control of ENaC activity. Genetic analysis has implications for the management of hypertension, specific treatment with amiloride and counselling in families with Liddle syndrome.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12882-019-1579-4","type":"journal-article","created":{"date-parts":[[2019,10,26]],"date-time":"2019-10-26T17:02:48Z","timestamp":1572109368000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Liddle syndrome due to a novel mutation in the \u03b3 subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report"],"prefix":"10.1186","volume":"20","author":[{"given":"Anastasiya A.","family":"Kozina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana A.","family":"Trofimova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena G.","family":"Okuneva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia V.","family":"Baryshnikova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varvara A.","family":"Obuhova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Yu.","family":"Krasnenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirill Yu.","family":"Tsukanov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olesya I.","family":"Klimchuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9414-4202","authenticated-orcid":false,"given":"Ekaterina I.","family":"Surkova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter A.","family":"Shatalov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valery V.","family":"Ilinsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,10,26]]},"reference":[{"key":"1579_CR1","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/j.cca.2014.05.015","volume":"436","author":"KQ Yang","year":"2014","unstructured":"Yang KQ, Xiao Y, Tian T, Gao LG, Zhou XL. 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The patient\u2019s parents have given written informed consent for themselves and for proband and his sister.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patient\u2019s parents gave written informed consent to studies and publication of photos, clinical and sequencing data of themselves, proband and his sister.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"EG, NV, AYu, KYu, OI, EI, PA, VV are employees of Genotek Ltd. The authors declare that they have no other competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"389"}}