Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene

• Autores principales: E. Conticini (Autor), A. Negro (Autor), L. Magnani (Autor), R. Ugolini (Autor), B. Atienza-Mateo (Autor), B. Frediani (Autor), C. Salvarani (Autor)
• Formato: Libro
• Publicado: PAGEPress Publications, 2020-04-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular, ophthalmological or musculoskeletal. We desc...