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Total colectomy for poorly controlled hypokalaemia due to Gitelman syndrome


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

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