Immunogenetics of primary hyperaldosteronism: fundamental studies and their clinical prospects

Abstract

Primary hyperaldosteronism (PHA) is the most common form of endocrine hypertension. Until recently, the reason for the development of this condition was believed to be the presence of genetic mutations, however, many studies declare that the disease can be polyetiologic, be the result of genetic mutations and autoimmune triggers or cell clusters of aldosterone-producing cells diffusely located in the adrenal gland at the zona glonerulosa, zona fasculata, zona reticularis, as well as directly under the adrenal capsule. Recently, the actions of autoantibodies to type 1 angiotensin II receptors have been described in patients with renal transplant rejection, with preeclampsia, and with primary hyperaldosteronism. The diagnostic role of antibodies in both forms of PHA (aldosterone-producing adenoma and bilateral hyperaldosteronism) requires clarification. Diagnosis and confirmation of the focus of aldosterone hypersecretion is a multi-stage procedure that requires a long time and economic costs. The relevance of timely diagnosis of primary hyperaldosteronism is to reduce medical and social losses. This work summarizes the knowledge about genetic mutations and presents all the original studies devoted to autoantibodies in PHA, as well as discusses the diagnostic capabilities and limitations of the available methods of primary and differential diagnosis of the disease and the prospects for therapy.