Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene

An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4 mEq/L), hypomagnesemia, and metabolic alkalosis (BE 5.7 mmol/L). In addition, his plasma renin activity was elevated. He was tentatively diagnosed with epilepsy on the basis of the electroencephalogra...

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Hlavní autoři: Makino, Shigeru, Tajima, Toshihiro, Shinozuka, Jun, Ikumi, Aki, Awaguni, Hitoshi, Tanaka, Shin-ichiro, Maruyama, Rikken, Imashuku, Shinsaku
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4124700/
https://ncbi.nlm.nih.gov/pubmed/25140267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/279389
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