Critical role of accurate diagnosis in Liddle's syndrome: a case report and literature review highlighting the importance of genetic testing, a rigorous diagnostic algorithm and early intervention in preventing cardiovascular and renal complications

Abstract

Liddle syndrome is a rare, monogenic, autosomal dominant cause of hypertension linked to mutations in the SCNN1A, SCNN1B, or SCNN1G genes, which are involved in the epithelial sodium channel. This leads to excessive sodium reabsorption, resulting in hypertension, hypokalemia, and low renin and aldosterone levels. Early genetic testing is essential for proper diagnosis and to avoid severe cardiovascular and renal issues. A 16-year-old male with recurrent muscle weakness, hypokalemia, and hypertension was misdiagnosed initially, but genetic testing revealed a mutation in the SCNN1B gene, confirming Liddle syndrome (LS). Treatment with amiloride normalized his potassium levels and stabilized his blood pressure. This case highlights the importance of genetic testing in diagnosing LS, ensuring timely treatment, and preventing complications. Early diagnosis can improve patient outcomes and help identify at-risk family members, underscoring the need for structured diagnostic approaches in cases of suspected LS.