Hindosh Naif, Hindosh Rand, Dada Bolanle, Bal Swomya
Internal Medicine, St. Luke's University Health Network, Easton, USA.
Nephrology, St Luke's University Health Network, Easton, USA.
Cureus. 2022 Jun 24;14(6):e26272. doi: 10.7759/cureus.26272. eCollection 2022 Jun.
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.
盖勒综合征是一种罕见疾病，属于孟德尔式高血压的一部分。该综合征由盐皮质激素受体突变导致功能获得性改变引起。其特征为高血压和低钾血症，孕酮的作用会使其加重，从而在孕期出现。我们的患者是一名22岁女性，诊断为子痫前期，在妊娠晚期出现低钾血症且治疗无效。患者分娩婴儿后低钾血症得以缓解。可进行基因检测以确诊盖勒综合征。治疗为支持性治疗，需要密切监测患者及其胎儿。胎儿娩出后高血压和低钾血症均会缓解。
