Cargando…
A Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter’s Syndrome in an Adult Female
Bartter’s syndrome (BS) is a disorder caused by a group of rare mutations that result in defective salt reabsorption in the thick ascending loop of Henle. BS is characterized by salt wasting, hypokalemia, and metabolic alkalosis, among other abnormalities. A MAGE-D2 mutation results in an X-linked f...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243719/ https://www.ncbi.nlm.nih.gov/pubmed/37288186 http://dx.doi.org/10.7759/cureus.38681 |