Journal of Nippon Medical School
Online ISSN : 1347-3409
Print ISSN : 1345-4676
ISSN-L : 1345-4676
Case Reports
A Case of Gitelman Syndrome that Was Difficult to Distinguish from Hypokalemic Periodic Paralysis Caused by Graves' Disease
Takeshi ObaShunsuke KobayashiYuko NakamuraMototsugu NagaoKandai NozuIzumi FukudaKazumoto IijimaHitoshi Sugihara
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2019 年 86 巻 5 号 p. 301-306

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A 21-year-old man presented with hyperthyroidism and hypokalemia and was treated for thyrotoxic hypokalemic periodic paralysis caused by Graves' disease. Thyroid function soon normalized but hypokalemia persisted. Laboratory data revealed hyperreninemic hyperaldosteronism and metabolic alkalosis consistent with Gitelman Syndrome. The patient was found to have a previously unreported compound heterozygous mutation of T180K and L858H in the SLC12A3 gene, and Gitelman Syndrome was diagnosed. He was started on eplerenone to control serum potassium level. Alternative diagnoses should be considered when electrolyte imbalances persist after disease resolution.

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© 2019 by the Medical Association of Nippon Medical School
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