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Abstract: FR-PO574

A Rare Mutation Causing Hypertension and Hypokalemia During Pregnancy

Session Information

  • Trainee Case Reports - III
    October 26, 2018 | Location: Exhibit Hall, San Diego Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Trainee Case Reports

  • 1002 Genetic Diseases of the Kidney: Non-Cystic

Authors

  • Chalasani, Meghana, University of Utah, Salt Lake City, Utah, United States
  • Al-Rabadi, Laith, University of Utah hospital, Salt Lake, Utah, United States
  • Abraham, Josephine, University of Utah, Salt Lake City, Utah, United States
Introduction

Geller syndrome is a rare autosomal dominant condition characterized by severe early-onset hypertension and hypokalemia in pregnancy due to a gain-of-function mutation that causes upregulated mineralocorticoid activity.

Case Description

A 42-year old woman presented to her obstetrician during her 29th week of pregnancy (G1P0) and was found to be hypertensive (172/109 mm Hg). Patient was diagnosed with hypertension in her late thirties which she initially managed with exercise but later required hydrochlorothiazide and atenolol for 3 years. Both were stopped when she became pregnant and she did not require initiation of any other agents. At week 29, patient presented to her obstetrician with hypertension. She was also noted then to have hypokalemia (2.9 mmol/L) and hypomagnesemia (1.4 mmol/L) both of which were repleted intravenously. Repeat labs three days later revealed a potassium of 2.9 mmol/L and a magnesium of 1.4 mmol/L. Nephrology was consulted for further evaluation. Patient denied using diuretics or any over-the-counter supplements. Lab work was notable for a trans-tubular potassium gradient (TTKG) of 6.7 consistent with renal potassium wasting. Extensive chart review was conducted including patient’s routine labs prior to pregnancy. Potassium levels pre-partum were consistently around 4 mmol/L. Patient was treated with oral potassium and magnesium supplements with frequent labs and instructions to discontinue supplements after delivery of fetus. Repeat labs four weeks post-partum revealed potassium of 3.8 mmol/L and magnesium of 2.0 mmol/L. Blood pressure also improved to 144/86 mm Hg.

Discussion

Geller syndrome is a rare autosomal dominant condition in which a gain-of-function mutation causes upregulation of mineralocorticoid activity by progesterone during pregnancy. The progesterone-high environment of pregnancy, particularly in the second and third trimesters, is likely the reason our patient suddenly developed hypertension and hypokalemia at 29 weeks. Although genetic testing is still pending, we are fairly confident in our diagnosis particularly because our patient’s blood pressure and potassium levels improved post-partum. It is important that clinicians are aware of this rare entity as treatment with aldosterone antagonists which theoretically sound ideal to treat hypertension with hypokalemia can in fact exacerbate the hypertension.