Gitelmans Syndrome with Mental Retardation
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概要
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A 56yearold mentally retarded Japanese woman (intelligence quotient: 49) was admitted to our hospital with the chief complaints of headache, dizziness, vomiting, and lower limb paralysis. Laboratory tests showed severe hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. These findings suggested a diagnosis of Gitelmans syndrome (GS). We examined the thiazidesensitive NaCl cotransporter (TSC) gene for the mutations that can be responsible for Gitelmans syndrome, and confirmed the diagnosis. After potassium and magnesium supplementation, her paralysis improved dramatically. The marriage of her parents was consanguineous. She had nine siblings (all with mental retardation), among whom five had died of unknown causes during childhood. Familial mental retardation has never been detected before in Gitelmans syndrome. Here we report a rare case of Gitelmans syndrome with familial mental retardation.
著者
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Tajima Toshihiro
Department Of Pediatrics Hokkaido University Graduate School Of Medicine
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Nakamura Akinobu
Division of Internal Medicine, Takikawa City Hospital
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Takeuchi Kaoru
Division of Internal Medicine, Takikawa City Hospital
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Morita Rena
Division of Internal Medicine, Takikawa City Hospital
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Kuroda Yoshihiko
Division of Internal Medicine, Takikawa City Hospital
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