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A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin

Our understanding of Gitelman syndrome (GS) and Bartter syndrome has continued to evolve with the use of genetic testing to more precisely define the tubular defects responsible. GS is caused by mutations in the SLC12A3 gene encoding the Na(+)–Cl(−) co-transporter of the distal convoluted tubule (NC...

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Detalles Bibliográficos
Autores principales: Larkins, Nicholas, Wallis, Mathew, McGillivray, Barbara, Mammen, Cherry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377751/
https://www.ncbi.nlm.nih.gov/pubmed/25852896
http://dx.doi.org/10.1093/ckj/sfu029