Cargando…
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...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Association of Clinical Endocrinology
2020
|
| Materias: | |
| 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 |