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- W4379768081 abstract "Bartter's syndrome (BS) is a disorder caused by a group of rare mutations that result in defective salt reabsorption in the thick ascending loop of Henle. BS is characterized by salt wasting, hypokalemia, and metabolic alkalosis, among other abnormalities. A MAGE-D2 mutation results in an X-linked form of BS. It results in a transient antenatal presentation that is observed to completely resolve by early infancy, usually occurring in males. We present a case of an adult female with intermittent recurrence of symptoms and metabolic derangements consistent with BS. She also has a family history of polyhydramnios and renal disease. Genetic testing later confirmed a novel MAGE-D2 mutation. Her atypical presentation emphasizes the heterogenous presentation of the different mutations and raises the possibility of persistence of abnormalities beyond infancy in mutations of the MAGE-D2 gene." @default.
- W4379768081 created "2023-06-09" @default.
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- W4379768081 date "2023-05-07" @default.
- W4379768081 modified "2023-10-14" @default.
- W4379768081 title "A Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter’s Syndrome in an Adult Female" @default.
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- W4379768081 doi "https://doi.org/10.7759/cureus.38681" @default.
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