An autosomal dominant disorder causing severe early-onset hypertension and hypokalemia due to constitutive activation of epithelial sodium channel (ENaC). Mimics hyperaldosteronism but aldosterone is suppressed. Responds to amiloride/triamterene.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Excellent prognosis with early diagnosis and appropriate treatment. Potassium-sparing diuretics (amiloride, triamterene) effectively control hypertension and hypokalemia. Low-sodium diet enhances treatment effectiveness. Blood pressure and electrolytes normalize with therapy. Without treatment, progressive hypertension leads to stroke, heart failure, and kidney failure by age 30-40. Lifelong treatment required. Genetic counseling for autosomal dominant inheritance.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning