GITELMAN SYNDROME AS A RARE CAUSE OF HYPOKALEMIA - CASE REPORT

Abstract

Gitelman syndrome is a rare autosomal recessive tubulopathy leading to hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and low-to-normal blood pressure. Clinical signs are mostly secondary to chronic hypokalemia and include dizziness, fatigue, constipation and weakness. Patients can also present with muscle cramps, tetany and convulsions due to severe metabolic alkalosis or hypomagnesemia. Therefore, early recognition and treatment are important. Diagnosis of Gitelman syndrome is usually made incidentally during adolescence or early adulthood based on clinical and biochemical findings. In this paper we report a case of a young women with classic Gitelman syndrome. Treatment included magnesium and potassium salts and potassium saving diuretics. In general, the long-term prognosis of Gitelman syndrome is excellent. However, the severity of fatigue may seriously hamper some patients in their daily activities.

Keywords

• Gitelman syndrome
• tubulopathy
• hypokalemia
• hypomagnesemia
• metabolic alkalosis