Decoding Monogenic Hypertension: A Review of Rare Hypertension Disorders

Area of Science:

• Endocrinology
• Genetics
• Nephrology

Background:

• Hypertension prevalence is increasing globally in children and adults.
• Most hypertension is multifactorial, but monogenic hypertension arises from single-gene mutations affecting kidney or adrenal function.
• Recognizing rare monogenic hypertension is crucial for targeted treatment, especially in pediatric and young adult populations.

Purpose of the Study:

• To review the epidemiology, pathophysiology, clinical presentation, and management of various monogenic hypertension disorders.
• To highlight recent case reports and current evaluation/treatment strategies.
• To emphasize the importance of understanding these rare conditions for proper diagnosis.

Main Methods:

• A scoping literature review was performed.
• The review focused on disorders classified as monogenic hypertension.
• Available knowledge on each disorder was systematically examined.

Main Results:

• The review covers familial hyperaldosteronism (types 1-4), Gordon syndrome, Liddle syndrome, apparent mineralocorticoid excess, congenital adrenal hyperplasia, Geller syndrome, hereditary pheochromocytoma/paraganglioma syndromes, and brachydactyly type E.
• Epidemiology, pathophysiology, clinical features, and treatment for each condition are discussed.
• Current diagnostic and therapeutic approaches are presented.

Conclusions:

• Advances in genetic analysis techniques are improving diagnosis and early management of monogenic hypertension.
• Early detection and intervention can prevent severe consequences of uncontrolled hypertension.
• Continued research in genetic analysis will enhance patient outcomes for these rare disorders.