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A Rare Case of Familiar Hypertension Presenting with Hypertensive Encephalopathy in an Elderly Patient: A Diagnostic Dilemma: A Presentation of Liddle's Syndrome due to Novel Mutation in SCNN1G Gene. | LitMetric

AI Article Synopsis

  • * The syndrome is caused by mutations in specific genes (SCNN1A, SCNN1B, SCNN1G) that are responsible for epithelial sodium channel subunits.
  • * A case study is presented involving a 60-year-old man with severe hypertension and family history, where genetic testing confirmed a new mutation in the SCNN1G gene linked to Liddle syndrome.

Article Abstract

Liddle's syndrome is a rare cause of secondary hypertension (HTN). Basic characteristics of this disease are HTN, reduced concentration of aldosterone and renin activity, as well as increased excretion of potassium, leading to hypokalemia and metabolic alkalosis. The cause of Liddle syndrome is missense or frame shift mutations in SCNN1A, SCNN1B, or SCNN1G genes that encode epithelial sodium channel subunits. We report an interesting case of uncontrolled HTN in a 60-year-old male, who presented with features of hypertensive encephalopathy, hypokalemia, and metabolic alkalosis. He had a family history of resistant HTN. On extensive evaluation, diagnosis of Liddle syndrome was suspected, and genetic analysis revealed novel mutation in SCNN1G gene in this patient.

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Source
http://dx.doi.org/10.4103/1319-2442.338292DOI Listing

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