Abstract: TH-PO1010
Refractory Hypokalemia Discovered in Pregnancy: A Presentation of Gitelman Syndrome
Session Information
- Women's Health and Kidney Diseases
November 06, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Women's Health and Kidney Diseases
- 2200 Women's Health and Kidney Diseases
Authors
- Quint, Sumar T., Hennepin Healthcare System Inc, Minneapolis, Minnesota, United States
- Pickthorn, Sean, University of Minnesota Twin Cities, Minneapolis, Minnesota, United States
Introduction
Gitelman syndrome is a salt wasting tubulopathy caused by an autosomal recessive mutation in the thiazide-sensitive Na-Cl co-transporter, usually encoded in the SLC12A3 gene. Clinically, patients present with hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. While sometimes asymptomatic, Gitelman syndrome can present with weakness, fatigue, and muscle cramps. There are no current guidelines for target electrolyte values in patients with Gitelman syndrome and pregnancy.
Case Description
A previously healthy, 30-year-old female G1P0 at 10-weeks gestation presented to nephrology for evaluation of incidentally found, refractory hypokalemia. Serum potassium at presentation was 2.6 mmol/L, magnesium of 1.8 mg/dL, and bicarbonate of 31 mmol/L. Workup revealed potassium wasting with 176.9 mmol in a 24-hour urine collection, with a high fractional excretion of potassium at 13.7%. She was started on 40 mEq potassium supplementation twice daily, and weekly lab monitoring targeting a serum potassium > 3.0 mmol/L. In her third trimester, potassium supplementation required titration to 60 mEq twice a day, likely due to expanding plasma volume. She underwent genetic testing which revealed a likely pathogenic variant in SLC12A3. She was referred to maternal fetal medicine and underwent additional safety monitoring of the fetus and has had no adverse outcomes in her pregnancy thus far.
Discussion
In asymptomatic women, pregnancy may be the first time a salt-wasting tubulopathy is discovered due to routinely checking labs. Pregnancy itself also causes increased aldosterone which can exacerbate hypokalemia. Hypokalemia is a known risk factor for poor fetal outcomes, including premature delivery and fetal demise. While there are case reports of successful treatment of Gitelman syndrome during pregnancy, there are no guidelines on the subject. We pursued a practical treatment approach by titrating oral potassium supplementation to a goal of a potassium greater than 3.0 mmol/L. Additionally, we agreed to coordinate intravenous supplementation if potassium dropped below 2.7 mmol/L, as fetal demise has been reported at those levels. Weekly lab monitoring was required initially, then relaxed to every 2-3 weeks after demonstrating stability. An interdisciplinary approach involving maternal fetal medicine was also crucial to developing a successful treatment plan.