Bartter syndrome with long-term follow-up: a case report-Reference-Cited by-同舟云学术

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

Published:2020-08 Issue:8 Volume:48 Page:030006052094787
ISSN:0300-0605
Container-title:Journal of International Medical Research
language:en
Short-container-title:J Int Med Res

Author:

Wu Xueling¹^ORCID,Yang Gang²,Chen Shiyu³,Tang Min³,Jian Shan⁴,Chen Fuhui⁵,Wu Xiulin⁶^ORCID

Affiliation:

1. Department of Respiratory Medicine, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China

2. Department of Cardiology, the Second Affiliated Hospital of Chongqing Medical University, Chongqing, Sichuan, China

3. Key Laboratory of Diagnostic Medicine designated by the Chinese Ministry of Education, Chongqing Medical University, Chongqing, Sichuan, China

4. Department of Paediatrics, Peking Union Medical College Hospital, Beijing, China

5. Department of Respiratory, the Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China

6. Department of Geriatrics, Southwest Hospital, Military Medical University, Chongqing, China

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.

Publisher

SAGE Publications

Subject

Biochemistry (medical),Cell Biology,Biochemistry,General Medicine

Link

http://journals.sagepub.com/doi/pdf/10.1177/0300060520947876

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