Liddle综合征研究进展

Advances in Liddle Syndrome

Liddle综合征是一种单基因致病型高血压,由于编码远端肾小管上皮钠通道的基因发生功能获得性突变,引起钠重吸收增加,水钠潴留,血压升高,同时伴有低血钾、低肾素、低醛固酮水平。临床常表现为早发高血压,易误诊为"原发性醛固酮增多症",基因检测可以确诊,早期诊断及精准治疗是改善预后的关键。

Liddle syndrome is a form of monogenic hypertension. It is caused by a gain-of-function mutation in the SCNN1 B or SCNN1 G genes which code for the epithelial sodium channel of distal renal tubule,which leads to increased sodium and water reabsorption causing hypertension,hypokalemia,and suppression of renin and aldosterone. It typically manifests as early onset of resistant hypertension which is frequently misrecognized of primary aldosteronism. Genetic testing can make a definite diagnosis. Early diagnosis and precise treatment are the key to improve the prognosis.