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Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation

A 36-year-old woman developed hypokalemic metabolic alkalosis after anti SS-A antibody was found to be positive. Diuretic loading test results were compatible with Gitelman syndrome (GS). The patient had a heterozygous mutation in SLC12A3, which encodes for thiazide-sensitive NaCl cotransporter (NCC...

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Detalles Bibliográficos
Autores principales: Kusuda, Takeshi, Hosoya, Tadashi, Mori, Takayasu, Ihara, Katsuhito, Nishida, Hidenori, Chiga, Motoko, Sohara, Eisei, Rai, Tatemitsu, Koike, Ryuji, Uchida, Shinichi, Kohsaka, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5140875/
https://www.ncbi.nlm.nih.gov/pubmed/27803420