LIDDLE SYNDROME: PATHOPHYSIOLOGY, CLINICAL FEATURES, TREATMENT.
Keywords:
Liddle syndrome, first described by Grant Liddle in 1963, is a form of pseudohyperaldosteronism. Despite clinical similarity to hyperaldosteronism, patients have suppressed renin and aldosterone levels.Abstract
Liddle syndrome is a rare autosomal dominant disorder characterized by early-onset hypertension, hypokalemia, and metabolic alkalosis. It results from gain-of-function mutations in epithelial sodium channel (ENaC) subunits. This expanded review covers detailed molecular mechanisms, clinical manifestations, diagnostics, differential diagnosis, and modern treatment approaches.
References
Liddle GW et al. A familial renal disorder simulating primary aldosteronism. J Clin Invest. 1963.
Gormley K et al. Liddle syndrome mechanisms. Hypertension. 2003.
Warnock DG. Liddle syndrome overview. Kidney Int. 2001.
Snyder PM. ENaC regulation. J Clin Invest. 2002.
Hanukoglu I. ENaC mutations. Endocr Dev. 2016.
Rossier BC et al. ENaC physiology. Physiol Rev. 2015.
Funder JW et al. Mineralocorticoid receptors. Endocr Rev. 2017.
Lifton RP et al. Genetic basis of hypertension. Nature. 2001.
Palmer LG. Ion transport mechanisms. Kidney Int. 2004.
Soundararajan R et al. ENaC and hypertension. Am J Physiol. 2010.
Azerbaijan
Türkiye
Uzbekistan
Kazakhstan
Turkmenistan
Kyrgyzstan
Republic of Korea
Japan
India
United States of America
Kosovo