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Total colectomy for poorly controlled hypokalaemia due to Gitelman syndrome
- 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 :
- General Medicine
Subjects
Details
- ISSN :
- 1757790X
- Volume :
- 16
- Database :
- OpenAIRE
- Journal :
- BMJ Case Reports
- Accession number :
- edsair.doi...........66a2cd6b7fdad7dfdd0e44f639802393