Department of Nephrology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Department of Plastic and Cosmetic Surgery, Fortis Hospital, Ludhiana, Punjab, India.
Saudi J Kidney Dis Transpl. 2021 Jul-Aug;32(4):1163-1165. doi: 10.4103/1319-2442.338292.
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.
林德尔氏综合征是一种罕见的继发性高血压（HTN）病因。该病的基本特征为高血压、醛固酮浓度降低和肾素活性降低，以及钾排泄增加，导致低钾血症和代谢性碱中毒。林德尔氏综合征的病因是编码上皮钠通道亚单位的 SCNN1A、SCNN1B 或 SCNN1G 基因突变引起的错义或移码突变。我们报告了一例 60 岁男性的有趣病例，其表现为高血压性脑病、低钾血症和代谢性碱中毒的特征。他有家族性难治性高血压病史。经过广泛评估，怀疑为林德尔氏综合征，基因分析显示该患者的 SCNN1G 基因存在新的突变。
