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.
PMID 35229818 | DOI 10.4103/1319-2442.338292 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2021
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SCNN1G | “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.” | 0.98 | hgnc_dict_v1 |
| gene | SCNN1A | “The cause of Liddle syndrome is missense or frame shift mutations in SCNN1A, SCNN1B, or SCNN1G genes that encode epithelial sodium channel subunits.” | 0.98 | hgnc_dict_v1 |
| gene | SCNN1B | “The cause of Liddle syndrome is missense or frame shift mutations in SCNN1A, SCNN1B, or SCNN1G genes that encode epithelial sodium channel subunits.” | 0.98 | hgnc_dict_v1 |
| phenotype | hypertension | “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.” | 0.98 | phenotype_alias_lexicon_v2 |