Article
Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
Endocrine journal - 1 Oct 2006
Tajima Toshihiro, Nawate Mitsuru, Takahashi Yutaka, Mizoguchi Yumiko, Sugihara Shigetaka, Yoshimoto Masaaki, Murakami Mutsumi, Adachi Masanori, Tachibana Katsuhiko, Mochizuki Hiroshi, Fujieda Kenji
Abstract excerpt
Deletions or mutations in the gene encoding the basolateral chloride channel CLC-Kb (CLCNKB) cause classic Bartter syndrome (MIM 602023), which is characterized by hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism and hypercalciura. These patients are usually diagnosed during infancy or childhood due to failure to thrive and growth retardation. The purpose of this study was to investigate the...
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