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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク EAST syndrome ： ウィキペディア英語版 EAST syndrome EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems). EAST syndrome is an autosomal recessive genetic disorder caused by mutations in the KCNJ10 gene, as discovered by Bockenhauer and co-workers. A variety of different mutations in KCNJ10 have since been implicated suggesting that the disease results from different spontaneous mutations. The tubulopathy (renal tubule abnormalities) in this condition predispose to hypokalemic (low potassium) metabolic alkalosis with normal blood pressure. Hypomagnesemia (low blood levels of magnesium) may also be present. ==See also== *Gitelman syndrome *Bartter syndrome *Liddle's syndrome 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「EAST syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.