A case report and literature review of Liddle syndrome caused by sodium channel epithelial 1 subunit β (SCNN1B) gene mutation

Liddle syndrome is a rare autosomal dominant monogenic hereditary disease, clinically characterized by early-onset hypertension, hypokalemia, metabolic alkalosis, hypoaldosteronism, hyporeninemia and non-responsiveness to mineralocorticoid receptor antagonists. This paper reports a case of a 14-year-old adolescent male patient presenting with early-onset severe hypertension complicated with target organ damage, accompanied by hypokalemia and hyporeninemia. Genetic testing results indicated two missense mutations in the sodium channel epithelial 1 subunit β (SCNN1B) gene, confirming the diagnosis of Liddle syndrome.