Patel Pranav, Kuriacose Reena
Department of Internal Medicine, ETSU Quillen College of Medicine, Johnson City, TN, USA.
Saudi J Kidney Dis Transpl. 2015 Jul-Aug;26(4):769-72. doi: 10.4103/1319-2442.160211.
Liddle's syndrome or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, hypokalemia and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron. As of 2008, there are <30 pedigrees or isolated cases that have been reported worldwide. We present an isolated case of a Liddle's syndrome in a 48-year-old female. A 48-year-old female presented to the clinic with palpitation and a three to four-year history of low potassium level and hypertension. She was initially treated with a high potassium diet and potassium supplements. Her cardiac work-up including echocardiography, stress test and Holter monitoring were all negative. After a few months, she was admitted to the hospital with an acute hypertensive episode and hypokalemia. On evaluation, she was found to have low renin and aldosterone levels. Liddle's syndrome was considered with the clinical picture of hypokalemia, hypertension and low renin/ aldosterone level. The patient was successfully treated with a high potassium diet, triamterene and atenolol. Liddle's syndrome should be considered as the differential diagnosis in patients presenting with the clinical picture of hypokalemia, hypertension and low renin/aldosterone level.
利德尔综合征或假性醛固酮增多症是一种罕见的常染色体显性疾病，类似于原发性醛固酮增多症，其特征为早发性高血压、低钾血症和醛固酮减少，由远端肾单位过度重吸收盐和水所致。截至2008年，全球报道的家系或散发病例不足30例。我们报告1例48岁女性的利德尔综合征散发病例。一名48岁女性因心悸以及有三到四年的低钾血症和高血压病史就诊于诊所。她最初接受高钾饮食和补钾治疗。她的心脏检查，包括超声心动图、负荷试验和动态心电图监测均为阴性。几个月后，她因急性高血压发作和低钾血症入院。经评估，发现她的肾素和醛固酮水平较低。结合低钾血症、高血压和低肾素/醛固酮水平的临床表现，考虑为利德尔综合征。该患者通过高钾饮食、氨苯蝶啶和阿替洛尔治疗成功。对于出现低钾血症、高血压和低肾素/醛固酮水平临床表现的患者，应考虑利德尔综合征作为鉴别诊断。
