A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration

The clinical phenotypes of patients with Bartter syndrome type III sometimes closely resemble those of Gitelman syndrome. We report a patient with mild, adult-onset symptoms, such as muscular weakness and fatigue, who showed hypokalemic metabolic alkalosis, elevated renin–aldosterone levels with nor...

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Detalhes bibliográficos
Publicado no:Meta Gene
Main Authors: Ohkubo, Kumiko, Matsuzaki, Tomoe, Yuki, Makiko, Yoshida, Ryoko, Terawaki, Yuichi, Maeyama, Akira, Kawashima, Hironobu, Ono, Junko, Yanase, Toshihiko, Matsunaga, Akira
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287957/
https://ncbi.nlm.nih.gov/pubmed/25606418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2014.04.005
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