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

Autor:	Kusuda, Takeshi, Hosoya, Tadashi, Mori, Takayasu, Ihara, Katsuhito, Nishida, Hidenori, Chiga, Motoko, Sohara, Eisei, Rai, Tatemitsu, Koike, Ryuji, Uchida, Shinichi, Kohsaka, Hitoshi
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	Adult Diagnosis Differential SLC12A3 mutation Antibodies Antinuclear Gitelman syndrome Humans Case Report Sjögren's syndrome Female Genetic Predisposition to Disease Solute Carrier Family 12 Member 3
Zdroj:	Internal Medicine
ISSN:	1349-7235 0918-2918
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::2a1214d61e8e2a6222ce618988eb4100 http://europepmc.org/articles/PMC5140875 Zobrazit plný text záznamu