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.
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http://dx.doi.org/10.7759/cureus.26272 | DOI Listing |
Cells
February 2025
Immuno-Oncology Program, Brown Cancer Center, Division of Immunotherapy, MD Department of Surgery, University of Louisville, Louisville, KY 40292, USA.
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is intricately related to the reprogramming of host metabolism. However, existing studies have mainly focused on peripheral blood samples and barely identified specific metabolites that are critically involved in the pathology of coronavirus disease 2019 (COVID-19). In the current small-scale study, we performed metabolic profiling in plasma ( = 61) and paired bronchoalveolar lavage fluid (BALF) samples ( = 20) using parallel two-dimensional liquid chromatography-mass spectrometry (2DLC-MS).
View Article and Find Full Text PDFAm J Hypertens
January 2025
Department of Medicine, College of Medicine, Northeast Ohio Medical University, Rootstown, OH, USA.
Hypertension is a growing concern worldwide, with increasing prevalence rates in both children and adults. Most cases of hypertension are multifactorial, with various genetic, environmental, socioeconomic, and lifestyle influences. However, monogenic hypertension, a blanket term for a group of rare of hypertensive disorders, is caused by single-gene mutations that are typically inherited in an autosomal dominant fashion, and ultimately disrupt normal blood pressure regulation in the kidney or adrenal gland.
View Article and Find Full Text PDFBone Marrow Transplant
December 2024
National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
J ECT
September 2024
From the Department of Psychiatry, Division of Child and Adolescent Psychiatry, University of Michigan, Ann Arbor, MI.
This is the first report of pediatric catatonia syndrome in MED13L haploinsufficiency syndrome. This report describes unique challenges in diagnosis and management of catatonia in rare genetic conditions. The case also illustrates the use of electroconvulsive therapy in patients with epilepsy, epileptic encephalopathy, or other epileptic diathesis and the clinical conundrum in determining the course of maintenance electroconvulsive therapy.
View Article and Find Full Text PDFJHEP Rep
July 2024
Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
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