Article
Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review.
Endocrine journal - 23 May 2024
Jiang Le, Li Dongmei, Guo Qiansha, Li Yunfeng, Zan Lei, Ao Rihan
Abstract excerpt
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. Classic BS, or BS Type 3, the most common subtype in the Asian population, is caused by a molecular defect in ClC-Kb, a voltage-gated chloride channel in renal tubules, due to CLCNKB gene mutation. Because...
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