Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous 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.
Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Japan.
Takeshi
T
Kusuda
Tadashi
T
Hosoya
Takayasu
T
Mori
Katsuhito
K
Ihara
Hidenori
H
Nishida
Motoko
M
Chiga
Eisei
E
Sohara
Tatemitsu
T
Rai
Ryuji
R
Koike
Shinichi
S
Uchida
Hitoshi
H
Kohsaka
D000328:Adult; D000974:Antibodies, Antinuclear / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D053579:Gitelman Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D064486:Solute Carrier Family 12, Member 3 / Q000235:genetics*
D000974:Antibodies, Antinuclear; C578874:SLC12A3 protein, human; C035356:SS-A antibodies; D064486:Solute Carrier Family 12, Member 3