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Total colectomy for poorly controlled hypokalaemia due to Gitelman syndrome

Authors :
Tetsuya Kawahara
Tetsuya Inazu
Shingo Ishida
Source :
BMJ Case Reports. 16:e252916
Publication Year :
2023
Publisher :
BMJ, 2023.

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.

Subjects

Subjects :
General Medicine

Details

ISSN :
1757790X
Volume :
16
Database :
OpenAIRE
Journal :
BMJ Case Reports
Accession number :
edsair.doi...........66a2cd6b7fdad7dfdd0e44f639802393