Ontology highlight
ABSTRACT:
SUBMITTER: Kozina AA
PROVIDER: S-EPMC6815463 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Kozina Anastasiya A AA Trofimova Tatiana A TA Okuneva Elena G EG Baryshnikova Natalia V NV Obuhova Varvara A VA Krasnenko Anna Yu AY Tsukanov Kirill Yu KY Klimchuk Olesya I OI Surkova Ekaterina I EI Shatalov Peter A PA Ilinsky Valery V VV
BMC nephrology 20191026 1
<h4>Background</h4>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 SCNN1A, SCNN1B, or SCNN1G genes that encode epithelial sodium channel subunits.<h4>Case presentation</h4>We desc ...[more]