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

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.

LEARNING POINTS

• Gitelman syndrome is a rare genetic disease which can affect women of childbearing age.

• There is no evidence-based treatment algorithm for treating pregnant patients with Gitelman syndrome.

• Electrolyte disturbances and their treatment in pregnant patients can be challenging since many drugs have limited safety data.