Abstract: PUB149
Diagnostic Challenge of Potassium-Wasting and Hypertension in Pregnancy: Lessons from a Geller Syndrome Workup
Session Information
Category: Fluid, Electrolytes, and Acid-Base Disorders
- 1102 Fluid, Electrolyte, and Acid-Base Disorders: Clinical
Authors
- Tse, Justin D., Sutter Roseville Medical Center, Roseville, California, United States
- Lin, Ryan C, Sutter Roseville Medical Center, Roseville, California, United States
- Wang, Jackson, Sutter Roseville Medical Center, Roseville, California, United States
Introduction
Hypokalemia in pregnancy is usually attributed to benign causes, yet persistent hypokalemia with hypertension raises concerns for rare renal potassium-wasting disorders. Among these, Geller syndrome, a rare mineralocorticoid receptor mutation that can be activated by progesterone, can precipitate severe hypokalemia and hypertension unique to pregnancy, due to heightened receptor sensitivity. This case underscores the need to recognize and systematically evaluate potassium-wasting syndromes in pregnancy to optimize outcomes and inform clinical decision-making.
Case Description
We present a 33-year-old woman, G6P2, at 21w6d weeks of gestation, presented with abdominal pain, marked hypokalemia (2.6 mEq/L), and systolic blood pressures in the 150s. She reported no previous history of hypertension or diuretic use and had no significant family history. Initial assessment excluded common etiologies, such as pre-eclampsia, prompting an expanded renal workup. Laboratory findings revealed profound renal potassium-wasting, evidenced by a trans-tubular potassium gradient of 11 and a urine potassium-to-creatinine ratio of 45, alongside low aldosterone levels, normal cortisol and thyroid function. She experienced persistent hypokalemia despite aggressive repletion which led to suspicion of Geller syndrome. Continued potassium supplementation, dietary guidance, and fetal delivery eventually led to stable potassium levels.
Discussion
This case highlights the diagnostic complexities of addressing refractory hypokalemia and hypertension in pregnancy, advocating for the consideration of rare etiologies like Geller syndrome. The suspicion of Geller syndrome informed a meticulous diagnostic approach, underscoring the importance of a comprehensive evaluation and genetic counseling in similar presentations. Such awareness can enhance clinicians’ diagnostic frameworks, equipping them to identify and manage rare syndromes if needed. By expanding the differential diagnosis for persistent hypokalemia and hypertension in pregnancy, this case underscores the potential for improved maternal-fetal outcomes through informed and targeted management strategies. Despite negative genetic testing, the patient’s postpartum resolution of symptoms suggested that other uncharacterized mutations may phenocopy Geller syndrome, warranting further research and clinical vigilance.