Gitelman syndrome during pregnancy – from diagnosis to treatment: a case series and review of the literature

Abstract

Abstract Objective: Gitelman syndrome (GS) is a rare renal disease, originating from a defect in the Na-Cl co-transporter in the distal tubule, which causes hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and low-normal blood pressure. Mild hypokalemia of pregnancy is physiological. Fatigue, nausea, vomiting, polyuria and low blood pressures are also common complaints associated with a normal pregnancy. Therefore, the diagnosis of an organic renal disorder, i.e., GS, may go undetected, until severe hypokalemia and possible life-threatening cardiac arrhythmias develop. Maternal consequences are obvious. The possibility of fetal pathology remains unclear. Study design: In this study, we describe nine pregnancies in seven women with a clinical diagnosis of GS. Nearly all women were diagnosed initially during pregnancy. We describe their clinical presentation, serum and urine electrolyte levels during pregnancy and immediately post-partum, their treatment and pregnancy outcome. Results: Fetal pregnancy outcomes were mostly favorable. While it is likely that women suffering from GS do not require special fetal surveillance, they are at high risk for electrolyte depletion and thus aggravation of GS during pregnancy. Conclusion: Clinical suspicion of GS should arise in all women presenting with symptomatic hypokalemia. Once the diagnosis is made, adequate supplementation and routine maternal monitoring should ensue.