The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing

Bartter syndrome (BS) and Gitelman syndrome (GS) are renal tubular disorders affecting sodium, potassium, and chloride reabsorption. Clinical features include muscle cramps and weakness, in association with hypokalemia, hypochloremic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Hypoma...

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Detalles Bibliográficos
Autores principales: Stevenson, Mark, Pagnamenta, Alistair T, Mack, Heather G, Savige, Judith, Giacopuzzi, Edoardo, Lines, Kate E, Taylor, Jenny C, Thakker, Rajesh V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9155595/
https://www.ncbi.nlm.nih.gov/pubmed/35668994
http://dx.doi.org/10.1210/jendso/bvac079

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9155595/
https://www.ncbi.nlm.nih.gov/pubmed/35668994
http://dx.doi.org/10.1210/jendso/bvac079

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