一名抗SSA抗体阳性且SLC12A3杂合突变患者的获得性吉特曼综合征
Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation.
作者信息
Kusuda Takeshi, Hosoya Tadashi, Mori Takayasu, Ihara Katsuhito, Nishida Hidenori, Chiga Motoko, Sohara Eisei, Rai Tatemitsu, Koike Ryuji, Uchida Shinichi, Kohsaka Hitoshi
机构信息
Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Japan.
出版信息
Intern Med. 2016;55(21):3201-3204. doi: 10.2169/internalmedicine.55.6390. Epub 2016 Nov 1.
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.
一名36岁女性在抗SS - A抗体检测呈阳性后出现低钾性代谢性碱中毒。利尿负荷试验结果符合吉特曼综合征（GS）。该患者SLC12A3存在杂合突变，SLC12A3编码噻嗪类敏感的氯化钠协同转运蛋白（NCCT）。虽然该突变可能导致NCCT潜在功能减退，但潜在的抗SS - A抗体相关自身免疫诱发了其功能减退的表现。据我们所知，这是首例证明抗SS - A抗体相关自身免疫可能在SLC12A3杂合突变患者中诱发GS的报告。
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