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

• Published in: Internal Medicine Vol. 55; no. 21; pp. 3201 - 3204
• Main Authors: Kusuda, Takeshi, Hosoya, Tadashi, Mori, Takayasu, Ihara, Katsuhito, Nishida, Hidenori, Chiga, Motoko, Sohara, Eisei, Rai, Tatemitsu, Koike, Ryuji, Uchida, Shinichi, Kohsaka, Hitoshi
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01-01-2016
• Subjects: Adult; Antibodies, Antinuclear - blood; Case Report; Diagnosis, Differential; Female; Genetic Predisposition to Disease; Gitelman syndrome; Gitelman Syndrome - blood; Gitelman Syndrome - diagnosis; Gitelman Syndrome - genetics; Humans; Sjögren's syndrome; SLC12A3 mutation; Solute Carrier Family 12, Member 3 - genetics
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.55.6390

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.