Abstract: SA-PO393
Gitelman Syndrome in Pregnancy: A Therapeutic Challenge with Outcomes Repercussions
Session Information
- Genetic and Diagnostic Trainee Case Reports
November 09, 2019 | Location: Exhibit Hall, Walter E. Washington Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Trainee Case Report
- 902 Fluid and Electrolytes: Clinical
Authors
- Jean, Nathalie, New York Medical College, Hartsdale, New York, United States
- Pandav, Jay A., Westchester Medical Center, Valhalla, New York, United States
- Chugh, Savneek S., New York Medical College, Hartsdale, New York, United States
- Gupta, Sanjeev, Westchester county medical center, Hartsdale, New York, United States
Introduction
Gitelman Syndrome is an autosomal recessive disorder resulting in loss of function of the sodium chloride cotransporter (NCCT). Patient presents with metabolic alkalosis, hypokalemia and hypomagnesemia. It usually manifests in late childhood or adulthood; these symptoms can be exacerbated during pregnancy due to increased demand of potassium and magnesium. Here we present 2 difficult to manage cases of Gitelman syndrome with one manifesting and the other worsening during pregnancy.
Case Description
Case 1: 32-year old female with history of Gitelman syndrome on maintenance daily dose of 60 mEq KCl and 400 mg magnesium oxide oral supplementation. During the first trimester of her pregnancy, patient developed severe hypomagnesemia of 1.1 mg/dl and was subsequently started on amiloride 10 mg PO daily, increased dose of magnesium oxide to 800 mg PO twice daily and potassium 40 mg 3 times daily. Despite this intervention, she continue to have low magnesium of less than 1.3mg/dl requiring frequent hospitalization with intravenous and oral magnesium supplementation. Patient was eventually maintained on amiloride 10mg twice a day and maximum tolerable dose of 3200mg of magnesium oxide and 160meq of potassium chloride. Despite this she still gets admitted every week for intravenous magnesium supplementation to maintain levels more than 1.6 mg/dl.
Case 2: 33-year old female with 32 weeks gestation presented with one day history of nausea, vomiting and severe leg cramping. She was found to have a potassium level of 2.7 mg/dL, calcium of 10.8 mg/dL and magnesium level of 1.3 mg/dL. She was started on oral Potassium chloride 40 mEq twice a day, Magnesium oxide 2400 mEq daily and Amiloride 10mg daily.
Discussion
Managing electrolyte abnormality in pregnant patients with Gitelman syndrome is very challenging. As we saw in our first case, patient remained hypomagnesemic despite maximum tolerable dose of 3200mg of magnesium, requiring multiple intravenous supplementations. The use of potassium sparing diuretics especially Amiloride (Class B in pregnancy) require close monitoring of amniotic fluid by obstetricians. To our knowledge, very few cases of pregnancy with Gitelman’s syndrome are reported and these cases require a very close monitoring and managing by a multidisciplinary team of obstetricians and nephrologists