Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report

Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report

Abstract Background 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...

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Main Authors: Anastasiya A. Kozina, Tatiana A. Trofimova, Elena G. Okuneva, Natalia V. Baryshnikova, Varvara A. Obuhova, Anna Yu. Krasnenko, Kirill Yu. Tsukanov, Olesya I. Klimchuk, Ekaterina I. Surkova, Peter A. Shatalov, Valery V. Ilinsky
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Nephrology
Subjects:
Liddle syndrome
ENaC
SCNN1G
Pseudoaldosteronism
Hypertension
Online Access:http://link.springer.com/article/10.1186/s12882-019-1579-4

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