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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Makino, Shigeru, Tajima, Toshihiro, Shinozuka, Jun, Ikumi, Aki, Awaguni, Hitoshi, Tanaka, Shin-ichiro, Maruyama, Rikken, Imashuku, Shinsaku
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2014
Assuntos:
Case Report
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados