Gitelman Syndrome

Definition

Gitelman syndrome is an autosomal recessive renal tubulopathy characterized by salt malabsorption in the distal convoluted tubule and is considered a milder variant of Bartter syndrome.

Symptoms

  • Mild muscle weakness and cramps
  • Fatigue
  • dizziness
  • Salt craving

Reasons

Mutation in the thiazide-sensitive Na-Cl cotransporter (NCC) gene in the distal tubule.

Diagnosis

Low potassium and magnesium in the blood, hypocalciuria, metabolic alkalosis.

Treatment

Magnesium and potassium supplements.

Which Polyclinic Should You Apply To?

Nephrology Polyclinic

What to Do in an Emergency?

In case of tetany or seizure due to severe hypomagnesemia, emergency services should be consulted.

This page is for general information purposes only.