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

• मुख्य लेखकों: Hee-Won Cho (लेखक), Sang Taek Lee (लेखक), Heeyeon Cho (लेखक), Hae Il Cheong (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...