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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha: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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