Bartter syndrome with long-term follow-up: a case report

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...

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Bibliographic Details
Published in:Journal of international medical research 2020-08, Vol.48 (8)
Main Authors: Wu, Xueling, Yang, Gang, Chen, Shiyu, Tang, Min, Jian, Shan, Chen, Fuhui, Wu, Xiulin
Format: Article
Language:English
Subjects:
Alkalosis
Blood pressure
Case Report
Case reports
Metabolism
Mutation
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Summary: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.
ISSN:0300-0605
1473-2300
DOI:10.1177/0300060520947876