Geller Syndrome: A Rare Cause of Persistent Hypokalemia During Pregnancy

Abstract

Geller syndrome is a rare disease and part of Mendelian forms of hypertension. This syndrome is caused by a mutation in the mineralocorticoid receptor with a resultant gain of function. It is characterized by hypertension and hypokalemia, which is exacerbated by the effect of progesterone and thereby presenting during pregnancy. Our patient is a 22-year-old female diagnosed with preeclampsia who presented with hypokalemia, refractory to treatment toward the end of her third trimester. The patient's hypokalemia resolved once she delivered her infant. Genetic testing is available, which can confirm the diagnosis of Geller syndrome. The management is supportive therapy and requires close monitoring of the patient and her fetus. Delivery of the fetus results in the resolution of both hypertension and hypokalemia.

Low renin forms of monogenic hypertension: review of the evidence

“…• Geller Syndrome Geller syndrome is an autosomal dominant disorder resulting from a gain-of-function mutation in the MR [50]. It is also known as Constitutive Activation of the Mineralocorticoid Receptor or Pregnancy-exacerbated Hypertension which is misleading as the condition also affects non-pregnant females and men [12,16].…”

“…It is also known as Constitutive Activation of the Mineralocorticoid Receptor or Pregnancy-exacerbated Hypertension which is misleading as the condition also affects non-pregnant females and men [12,16]. Less than 10 cases have been reported since its initial description in 2000 by Geller et al [50]. The causative mutation affects the hormone-binding domain of the receptor and results from the substitution of leucine for serine at amino acid 810 in chromosome 4q31 [12,17].…”

“…Hypertension and hypokalemia have been noted to peak within the third trimester [17]. Definitive diagnosis, as for a lot of these monogenic disorders, is through genetic testing for the mutations in the MR [50]. Treatment includes limitation of dietary salt, and epithelial sodium channel antagonists such as amiloride and finerenone (a nonsteroidal selective antagonist of the mutant MR) [26,31,33].…”

“…Treatment includes limitation of dietary salt, and epithelial sodium channel antagonists such as amiloride and finerenone (a nonsteroidal selective antagonist of the mutant MR) [26,31,33]. Close monitoring of fetal and maternal conditions while managing blood pressure and serum potassium levels during pregnancy is the mainstay of treatment [50]. Blood pressure and serum potassium levels return to normal in the postpartum period [17].…”

Genetics of Hypertension: From Monogenic Analysis to GETomics

“…Clinically, this presents as hypertension and hypokalemia during high progesterone states, such as pregnancy. Thus, every pregnancy in a patient with Geller syndrome should be closely monitored [54].…”