One of the most frequent causes of secondary hypertension is primary aldosteronism.
The disease is caused by the autonomous aldosterone production of the adrenal cortex
leading to elevated aldosterone levels causing hypertension and often hypokalemia,
and if untreated, could lead to a plethora of pathophysiological issues. The diagnosis
and treatment of primary aldosteronism is of paramount significance, since depending
on its subtype, surgical or pharmaceutical intervention can lead to the full recovery
of the patient. However, due to the difficulties in diagnosis, the illness often remains
underdiagnosed. The two most common causes of primary aldosteronism are unilateral
aldosterone producing adenoma and bilateral adrenal hyperplasia. The majority of cases
are sporadic, but hereditary forms are also known, namely, familiar hyperaldosteronism
types I-IV and primary aldosteronism with seizures and neurological abnormalities
syndrome. Familiar hyperaldosteronism type I is caused by the unequal crossing-over
of two genes coding for the enzymes catalyzing the last steps in cortisol and aldosterone
biosynthesis, while the other types of hereditary aldosteronisms are caused by mutations
in genes coding ion channels. In a significant portion of sporadic aldosterone producing
adenomas, somatic mutations can be diagnosed in genes that are also affected by germ-line
mutations in the hereditary forms of primary aldosteronism. The overlap in genes involved
in the hereditary and sporadic forms of the disease underlines the common pathomechanisms
in these two disease entities. In our review, we present the genetic background of
primary aldosteronism, the genes involved in both hereditary and sporadic forms and
their mutations, with an outlook on their scientific, therapeutic and diagnostic significance.
Orv Hetil. 2023; 164(9): 332-338.
