Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent

OBJECTIVE: Liddle syndrome (LS) is a rare autosomal dominant condition secondary to a gain-of-function mutation affecting the epithelial sodium channels (ENaCs) in the distal nephron. It presents with early-onset hypertension, hypokalemia, and metabolic alkalosis in the face of hyporeninemia and hyp...

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Detalles Bibliográficos
Autores principales: Brower, Raven K., Ghlichloo, Ida A., Shabgahi, Venus, Elsholz, Daniel, Menon, Ram K., Vyas, Arpita K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924163/
https://www.ncbi.nlm.nih.gov/pubmed/33851023
http://dx.doi.org/10.1016/j.aace.2020.11.017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924163/
https://www.ncbi.nlm.nih.gov/pubmed/33851023
http://dx.doi.org/10.1016/j.aace.2020.11.017

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