Bartter Syndrome Type 1 Due to Novel SLC12A1 Mutations Associated With Pseudohypoparathyroidism Type II

Bartter syndrome type 1 is caused by mutations in the solute carrier family 12 member 1 (SLC12A1), encoding the sodium-potassium-chloride cotransporter-2 (NKCC2). In addition to causing renal salt-losing tubulopathy, SLC12A1 mutations are known to cause nephrocalcinosis due to hypercalciuria, as wel...

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Detalles Bibliográficos
Autores principales: Kiuchi, Zentaro, Nozu, Kandai, Yan, Kunimasa, Jüppner, Harald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580512/
https://www.ncbi.nlm.nih.gov/pubmed/37908481
http://dx.doi.org/10.1210/jcemcr/luad019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580512/
https://www.ncbi.nlm.nih.gov/pubmed/37908481
http://dx.doi.org/10.1210/jcemcr/luad019

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