Abstract: TH-PO625
Geller Syndrome: Two Cases of Hypertension and Hypokalemia in Pregnancy
Session Information
- Fellows/Residents Case Reports: Genetic Diseases, Pregnancy, Monoclonal Gammopathy
November 02, 2017 | Location: Hall H, Morial Convention Center
Abstract Time: 10:00 AM - 10:00 AM
Category: Nephrology Education
- 1302 Fellows and Residents Case Reports
Authors
- Mulkanoor, Vinay, Lehigh Valley Health Network, Emmaus, Pennsylvania, United States
- Maynard, Sharon E., Lehigh Valley Health Network, Emmaus, Pennsylvania, United States
Background
In 2000, Geller et al described a familial syndrome of hypertension (HTN) and hypokalemia, exacerbated by pregnancy, caused by an activating mutation of the mineralocorticoid receptor (MR). Since this description, no further cases have been reported. Here we describe 2 patients with features consistent with Geller syndrome.
Methods
Case 1: A 38 yo woman was admitted at 32 weeks gestation for HTN and hypokalemia. She had a history of HTN prior to pregnancy but was on no medications. At 22 weeks, she developed weakness and hypokalemia (K 2.8 mg/dl). The BP was 130/99. She received IV and PO KCl replacement. At 30 weeks, the BP was 150/80 and she was prescribed methyldopa. One week later, the BP was 160/100 and labetalol was started. On the day of admission, 32 weeks gestation, the BP was 163/89 and the K was 3.0 mg/dl. She denied nausea, vomiting, or diarrhea. There was a family history of HTN in the patient’s mother and father, but no family history of hypokalemia. Physical examination showed 1+ bilateral lower extremity edema. There was no proteinuria. Urine K was 23.2 mmol/L, urine Cr 44.5 mg/dl, plasma Aldosterone <3.0 ng/dL, and renin activity 2.1 ng/ml/h
Case 2: A 36 yo woman was admitted at 26 weeks gestation for HTN and hypokalemia. She had a history of gestational HTN in two prior pregnancies, and chronic HTN diagnosed 2 years prior. Her BP was normal off medications for the first half of pregnancy. At 24 weeks, the BP was 151/91. At 26 weeks, she reported weakness and her K was 2.6 mg/dl; she was admitted. Physical exam showed BP 179/80 and peripheral edema. There was no proteinuria. Urine K was 20.3 mmol/L, urine Cr 43.7 mg/dl, plasma aldosterone 1 ng/dl, renin activity 1.9 ng/ml/h
Conclusion
Normally the MR is activated by aldosterone, but inhibited by progesterone. The novel MR S810L, described by Geller et al, is activated by both aldosterone and progesterone. In the initial description, two MR L810 carriers had a pregnancy-induced exacerbation of HTN and hypokalemia in 5 pregnancies, with low aldosterone levels. High progesterone in pregnancy was implicated. Our patients experienced worsening HTN and new hypokalemia in pregnancy, with renal potassium wasting and low renin and aldosterone levels, consistent with Geller syndrome. Both patients responded to amiloride. Geller syndrome should be considered in women with HTN and hypokalemia in pregnancy.