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 excerpt

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...

Topics

• Humans
• Male
• Adolescent
• Genetic Testing
• Liddle Syndrome
• Algorithms