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

Kusuda Takeshi; Hosoya Tadashi; Mori Takayasu; Ihara Katsuhito; Nishida Hidenori; Chiga Motoko; Sohara Eisei; Rai Tatemitsu; Koike Ryuji; Uchida Shinichi; Kohsaka Hitoshi

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

机译：具有SLC12A3杂合突变的抗SSA抗体阳性患者的后天Gitelman综合征

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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.

机译：发现抗SS-A抗体呈阳性后，一名36岁妇女发展为低钾代谢性碱中毒。利尿负荷测试结果与吉特曼综合征（GS）兼容。该患者在SLC12A3中具有杂合突变，该突变编码噻嗪类敏感的NaCl共转运蛋白（NCCT）。虽然该突变可能是NCCT潜在功能低下的原因，但潜在的抗SSA抗体相关的自身免疫诱导了功能低下的表现。据我们所知，这是第一份证明抗SS-A抗体相关的自身免疫性可以在SLC12A3杂合突变患者中诱导GS的报告。

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《Internal medicine.》 |2016年第21期|共4页
作者
Kusuda Takeshi; Hosoya Tadashi; Mori Takayasu; Ihara Katsuhito; Nishida Hidenori; Chiga Motoko; Sohara Eisei; Rai Tatemitsu; Koike Ryuji; Uchida Shinichi; Kohsaka Hitoshi;
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正文语种 eng
中图分类内科学;
关键词
Sjogren's syndrome; Gitelman syndrome; SLC12A3 mutation;

机译：干燥综合征;盖特尔曼综合征;SLC12A3突变;

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1. Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation [J] . Kusuda Takeshi, Hosoya Tadashi, Mori Takayasu, Internal medicine. . 2016,第21期

机译：具有SLC12A3杂合突变的抗SSA抗体阳性患者的后天Gitelman综合征
2. Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation [J] . Takeshi Kusuda, Tadashi Hosoya, Takayasu Mori, Internal medicine. . 2016,第21期

机译：SLC12A3杂合突变的抗SSA抗体阳性患者的获得性吉特曼综合征
3. Acquired Gitelman syndrome in a primary Sj?gren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review [J] . Gu Xiangchen, Su Zheling, Chen Min, Nephrology. . 2017,第8期

机译：在初级SJ中获得的吉其尔曼综合征？GREN综合征患者，具有SLC12A3杂合突变：案例报告和文献综述
4. The Spectrum of SCN5A Gene Mutations in Singapore Brugada Syndrome Patients [C] . Rita Yu Yin Yong, BY. Tan, LSH. Gan, International Molecular Medicine Tri-Conference. . 2016

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5. Evaluation of the accuracy of quantitative models in predicting Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) mutations in a population-based sample of early-onset colorectal cancer patients [D] . Carpiniello, Lauren 2007

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6. Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation [O] . Takeshi Kusuda, Tadashi Hosoya, Takayasu Mori, 2016

机译：SLC12A3杂合突变的抗SSA抗体阳性患者中获得的吉特尔曼综合症。
7. Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene [O] . Sahoko Kamejima, Izumi Yamamoto, Akiko Tajiri, 2021

机译：长期临床课程患有肾脏捐赠的肾脏捐赠，患有吉他人综合征，含有 SLC12A3 基因的化合物杂合突变

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

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