Cargando…

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, enc...

Descripción completa

Detalles Bibliográficos
Autores principales: Vergine, Gianluca, Fabbri, Elena, Pedini, Annalisa, Tedeschi, Silvana, Borsa, Niccolò
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841104/
https://www.ncbi.nlm.nih.gov/pubmed/29527380
http://dx.doi.org/10.1155/2018/9175271