Acquired gitelman syndrome in an anti-SSA antibody-positive patient with a SLC12A3 heterozygous mutation

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Abstract

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.

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Kusuda, T., Hosoya, T., Mori, T., Ihara, K., Nishida, H., Chiga, M., … Kohsaka, H. (2016). Acquired gitelman syndrome in an anti-SSA antibody-positive patient with a SLC12A3 heterozygous mutation. Internal Medicine, 55(21), 3201–3204. https://doi.org/10.2169/internalmedicine.55.6390

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