Bartter syndrome with long-term follow-up: a case report. Issue 8 (August 2020)

• Record Type: Journal Article
• Authors: Wu, Xueling; Yang, Gang; Chen, Shiyu; Tang, Min; Jian, Shan; Chen, Fuhui; Wu, Xiulin
• Is Part Of: Journal of international medical research. Volume 48:Issue 8(2020)
• Publication Date: 2020-08
• Subjects: Hypokalemia -- metabolic alkalosis -- hyperrenin-induced angiotensinemia -- Bartter syndrome -- chloride channel Kb -- indomethacin; Medicine -- Periodicals; Pharmacology -- Periodicals; 610.5
• DOI: 10.1177/0300060520947876
• Languages: English
• ISSNs: 0300-0605

Abstract

Bartter syndrome is a rare inherited disease caused by CLCNKB mutation, which results in inactivation of the chloride channel Kb protein. Bartter syndrome is characterized by extreme hypokalemia, hypochloremia, metabolic alkalosis, hyperrenin-induced angiotensinemia, hyperaldosteronemia, and normal blood pressure. We herein report a case of Bartter syndrome that manifested as vomiting, hypokalemia, metabolic alkalosis, normal blood pressure, and significant hyperrenin-induced angiotensinemia. The patient, a 5-month-old girl, carried two known heterozygous pathogenic mutations: c.88C > T (p.Arg30*), which she had inherited from her father, and c.1313G > A (p.Arg438His), which she had inherited from her mother. Treatment with indomethacin, a nonsteroidal anti-inflammatory drug, led to rapid improvement of the hypokalemia, and treatment was continued for 14 years. The indomethacin also induced a sustainable reduction in the hypokalemia and metabolic alkalosis.