A novel mutation of in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome

• 主要な著者: Hee-Won Cho (著者), Sang Taek Lee (著者), Heeyeon Cho (著者), Hae Il Cheong (著者)
• フォーマット: 図書
• 出版事項: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of pat...