Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a <i>SLC12A3</i> Heterozygous Mutation
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- Kusuda Takeshi
- Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Japan
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- Hosoya Tadashi
- Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Japan
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- Mori Takayasu
- Department of Nephrology, Graduate School of Medical and Dental Sciences, TMDU, Japan
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- Ihara Katsuhito
- Department of Nephrology, Graduate School of Medical and Dental Sciences, TMDU, Japan
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- Nishida Hidenori
- Department of Nephrology, Graduate School of Medical and Dental Sciences, TMDU, Japan
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- Chiga Motoko
- Department of Nephrology, Graduate School of Medical and Dental Sciences, TMDU, Japan
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- Sohara Eisei
- Department of Nephrology, Graduate School of Medical and Dental Sciences, TMDU, Japan
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- Rai Tatemitsu
- Department of Nephrology, Graduate School of Medical and Dental Sciences, TMDU, Japan
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- Koike Ryuji
- Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Japan Clinical Research Center, TMDU Hospital, Japan
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- Uchida Shinichi
- Department of Nephrology, Graduate School of Medical and Dental Sciences, TMDU, Japan
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- Kohsaka Hitoshi
- Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Japan
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抄録
<p>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 antibody-associated autoimmunity induced the manifestation of its hypofunction. To the best of our knowledge, this is the first report to demonstrate that anti SS-A antibody-associated autoimmunity may induce GS in a patient with a SLC12A3 heterozygous mutation. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 55 (21), 3201-3204, 2016
一般社団法人 日本内科学会