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

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...

Full description

Saved in:
Bibliographic Details
Published in:Saudi journal of kidney diseases and transplantation 2021-07, Vol.32 (4), p.1163-1165
Main Authors: Suman, Sethi, Sudhir, Mehta, Nitin, Sethi, Vikas, Makkar, Simran, Kaur, Preet, Sohal
Format: Article
Language:English
Subjects:
Aged
Aged patients
Aldosterone
Alkalosis
Corticosteroids
Diagnosis
Encephalopathy
Epithelial Sodium Channels - genetics
Genes
Genetic aspects
Humans
Hypertension
Hypertension - diagnosis
Hypertension - genetics
Hypertensive Encephalopathy
Hypokalemia
Hypokalemia - etiology
Hypokalemia - genetics
Liddle Syndrome - diagnosis
Liddle Syndrome - genetics
Male
Medical diagnosis
Metabolism
Middle Aged
Mutation
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1319-2442
2320-3838
DOI:10.4103/1319-2442.338292