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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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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 |