Monogenic hypertension

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Vincenza Precone
Geraldo Krasi
Giulia Guerri
Liborio Stuppia
Francesco Romeo
Marco Perrone
Carla Marinelli
Alessandra Zulian
Tiziano Dallavilla
Matteo Bertelli


Hypertension, apparent mineralocorticoid excess, hyperaldosteronism, congenital adrenal hyperplasia, Liddle syndrome, pseudohypoaldosteronism


Hypertension is a significant public health problem. Thirty percent of cases are caused by a single genetic mutation. Hypertension is the predominant and usually the only manifestation in monogenic hypertension Monogenic hypertension may involve mineralcorticoid-dependent or -independent increase in Na+ transport. Diagnosis is based on routine physical examination, blood pressure measurement and laboratory analysis of renin, aldosterone, cortisol and potassium. Genetic testing is useful for confirming diagnosis and for differential diagnosis. Monogenic hypertension has autosomal dominant or autosomal recessive inheritance.


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