Gitelman Syndrome Diagnosed in a Woman in the Second Trimester of Pregnancy

Authors

• Sila Çetik Department of Internal Medicine, Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey
• Nursel Calik Basaran Department of Internal Medicine, Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey
• Lale Ozisik Department of Internal Medicine, Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey
• Serife Gul Oz Department of Internal Medicine, Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey
• Mustafa Arici Department of Nephrology, Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey

silakukner@gmail.com

Keywords

Abstract

Gitelman syndrome is a rare renal tubule disease characterized by hypokalaemia, metabolic alkalosis, hypomagnesaemia, hypocalciuria and normal blood pressure. It shows autosomal recessive inheritance and is usually not diagnosed until late childhood or adulthood. We report the case of 34-year-old woman who at 21 weeks of pregnancy was admitted to the gynaecology department for abdominal pain, muscle cramps and weakness. Routine blood tests showed hypokalaemia (2.32 mEq/l), hypomagnesaemia (1.18 mEq/l), compensated metabolic alkalosis (pH 7.439, bicarbonate 26.1 mmol/l), increased urinary magnesium excretion (140.25 mg/day, normal range 73–122 mg/day) and reduced urinary calcium excretion (49.25 mg/day, normal range 100–250 mg/day). In light of these findings, the patient was diagnosed with Gitelman syndrome and optimum potassium and magnesium levels were maintained with oral supplements.