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Case Reports: Findings that shed new light on the possible pathogenesis of a disease
Total colectomy for poorly controlled hypokalaemia due to Gitelman syndrome
  1. Tetsuya Kawahara1,
  2. Tetsuya Inazu2 and
  3. Shingo Ishida3
  1. 1Endocrinology and Metabolism, Shin Komonji Hospital, Kitakyushu, Fukuoka, Japan
  2. 2College of Pharmaceutical Science, Ritsumeikan University—Biwako Kusatsu Campus, Kusatsu, Shiga, Japan
  3. 3Surgery, Shin Komonji Hospital, Kitakyushu, Fukuoka, Japan
  1. Correspondence to Dr Tetsuya Kawahara; k-tetsuy{at}med.uoeh-u.ac.jp

Abstract

Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by dysfunction of the thiazide-sensitive sodium–chloride cotransporter, which leads to hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. Patients with GS show varied clinical features due to hypokalaemia: tetany, muscle weakness, periodical paralysis and constipation, which is one of the most frequent ones. This paper presents the case of a woman in her 40s referred to our endocrinology department for severe hypokalaemia. After biochemical and genetic analyses, a diagnosis of GS was established. Concurrently, the patient suffered from refractory constipation due to hypokalaemia and underwent a total colectomy with ileorectal anastomosis, which cured both disorders without any medication for 3 years.

  • Endocrinology
  • Gastroenterology
  • Fluid electrolyte and acid-base disturbances

https://doi.org/10.1136/bcr-2022-252916

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    Footnotes

    • Contributors TK and SI made the conception and design, and collected data. TI analysed and interpreted the data. TK drafted the article, and SI and TI revised it critically for important intellectual content. TK, SI and TI made an agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved. TK is responsible for the overall content as the guarantor.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.