Journal
CLINICAL KIDNEY JOURNAL
Volume 14, Issue 4, Pages 1269-1271Publisher
OXFORD UNIV PRESS
DOI: 10.1093/ckj/sfaa150
Keywords
aldosterone; hypertension; hypokalemia; potassium channel; somatic mutation
Categories
Funding
- National Institute of Diabetes and Digestive and Kidney Diseases [DK106618]
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This case study presents a unique presentation of Conn's syndrome in a young man with resistant hypertension and severe hypokalemia, eventually diagnosed as primary aldosteronism. Genetic studies revealed a gain-of-function KCNJ5 mutation within an aldosterone-producing adenoma that was responsive to changes in extracellular potassium levels, highlighting the implications for the molecular mechanisms of potassium regulation of aldosterone.
Primary aldosteronism is the most common cause of secondary hypertension; however, the dynamic regulation of aldosterone by potassium is less well studied and current diagnostic recommendations are imprecise. We describe a young man who presented with resistant hypertension and severe hypokalemia. The workup initially revealed undetectable aldosterone despite acute potassium repletion. Chronic potassium supplementation eventually uncovered hyperaldosteronism. In situ genetic studies revealed a gain-of-function KCNJ5 mutation within an aldosterone-producing adenoma that was clinically responsive to changes in extracellular potassium. We highlight a unique presentation of Conn's syndrome and discuss the implications for the molecular mechanisms of potassium regulation of aldosterone.
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