Article
Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation.
Internal medicine (Tokyo, Japan) - 1 Jan 2000
Kusuda Takeshi, Hosoya Tadashi, Mori Takayasu, Ihara Katsuhito, Nishida Hidenori, Chiga Motoko, Sohara Eisei, Rai Tatemitsu, Koike Ryuji, Uchida Shinichi, Kohsaka Hitoshi
Abstract excerpt
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 (NCCT). While the mutation may be responsible for a latent hypofunction of NCCTs, the underlying anti-SSA...
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