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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Bibliographic Details
Main Authors: Ohkubo, Kumiko, Matsuzaki, Tomoe, Yuki, Makiko, Yoshida, Ryoko, Terawaki, Yuichi, Maeyama, Akira, Kawashima, Hironobu, Ono, Junko, Yanase, Toshihiko, Matsunaga, Akira
Format: Online
Language:English
Published: Elsevier 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287957/