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

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

来源：Internal Medicine, 2016, 55(21): 3201-3204.

DOI：10.2169/internalmedicine.55.6390

• Sjogren's syndrome
• Gitelman syndrome
• SLC12A3 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 (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.

• 出版日期2016