Monogenic causes of secondary hypertension (lecture)
Keywords:arterial hypertension, treatment, diagnosis, causes
In recent decades, some monogenic forms of arterial hypertension have been identified. They were caused by specific pathways due to rare disruptive mutations in individual genes that determined an early and severe hypertension phenotype. At least 37 genes are known, the disruption of which is clearly accompanied by a dysfunction of the blood pressure regulation. This knowledge improves our understanding of both the mechanisms of development and treatment of hypertension. The genetic causes of secondary hypertension are usually due to a single gene disorder. The discovery of genes responsible for monogenic forms of hypertension revealed the role of the kidneys and adrenal glands as important players in the regulation of blood pressure. Most of these syndromes are caused by mutations that lead to increased of the function or its loss, which in turn leads to changes in the content of mineralocorticoids, glucocorticoids or sympathetic pathway activation. Monogenic forms of hypertension often lead to severe forms of hypertension, electrolyte and hormonal disorders, accompanied by drug resistance, and often cause a higher risk of cardiovascular events and premature death. The lecture provides recommendations for genetic testing in hypertension, an algorithm for diagnostic examination of a patient with suspected monogenic form of hypertension, as well as features of the clinical course and treatment of the main known forms of monogenic hypertension.
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