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

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 metaboli...

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Bibliografiske detaljer
Udgivet i:BMC Nephrol
Main Authors: Kozina, Anastasiya A., Trofimova, Tatiana A., Okuneva, Elena G., Baryshnikova, Natalia V., Obuhova, Varvara A., Krasnenko, Anna Yu., Tsukanov, Kirill Yu., Klimchuk, Olesya I., Surkova, Ekaterina I., Shatalov, Peter A., Ilinsky, Valery V.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6815463/
https://ncbi.nlm.nih.gov/pubmed/31655555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-019-1579-4
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