Year: 2025
Type: article
Study design: Case Report
Abstract: There is a wide differential for a patient presenting with hypokalemia and hypertension in pregnancy. Of these, Geller syndrome is a rare variant of mineralocorticoid receptor that leads to concomitant hypokalemia and gestational hypertension. Progesterone has been shown to have a high affinity for the mineralocorticoid receptor and thus antagonizes aldosterone functioning. However, in Geller syndrome, there is a mutation of the mineralocorticoid receptor with a resultant gain of function. Activation of the mutated receptor is characterized by hypertension and hypokalemia, which is exacerbated by the effect of progesterone and thereby presenting during pregnancy. Genetic testing 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. This report describes the case of a 25-year-old female patient with a history of alpha-1 antitrypsin deficiency who presented with symptomatic hypokalemia refractory to treatment in her third trimester.
Source: Cureus
DOI: 10.7759/cureus.79242
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4407688304