Wednesday, July 7, 2010
CONSULT ROUNDS:Rare and Interesting Cause of Hypertension and Hypokalemia in Pregnancy - GELLAR SYNDROME
It is an extremely rare disorder that usually presents in pregnancy. It is caused by missense mutation in the mineralocorticoid receptor(MR). Under normal circumstances the MR is not activated sufficiently by progesterone. However, this missense mutation in the MR alters its binding affinity and in the setting of elevated plasma progesterone, as in pregnancy, severe hypertension with hypokalemic metabolic alkalosis can occur. This entity should be suspected in a previously normotensive patient who develops severe hypertension and hypokalemia during pregnancy, particularly during second and third trimester, when progesterone levels are high. Spironolactone is ineffective as the mutated receptor is not blocked by it. Patients should be managed with antihypertensive agents. Subsequent to delivery, when progesterone level normalizes, patients become normotensive again.
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