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 (NCC...

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Bibliographic Details
Published in:Internal Medicine 2016/11/01, Vol.55(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: Article
Language:English
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
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Summary: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.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.55.6390