Family hyperaldosteronism type I: a clinical case and review of literature


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Abstract

Family hyperaldosteronism type I (glucocorticoids-remediable hyperaldosteronism) is a rare form of symptomatic arterial hypertension (AH), which often leads to the development of cerebrovascular complications. The disease is caused by the formation of the chimeric gene CYP11B2/CYP11B1. Expression of the chimeric gene is regulated by adrenocorticotropic hormone, and glucocorticoid therapy leads to a decrease in aldosterone secretion and normalization of blood pressure. The article presents the first clinical case of this monogenic disease diagnosed by us in Russia. The features of clinical course and treatment of the patient have been traced in the dynamics for 40 years of observation. Modern approaches to the diagnosis and treatment of this rare family form of hypertension are discussed.

About the authors

N M Chikladze

National Medical Cardiology Research Center of the Ministry of Healthcare of the Russian Federation

Email: novella.cardio@mail.ru
д.м.н., проф., в.н.с. отд. гипертонии НИИ клинической кардиологии им. А.Л. Мясникова ФГБУ «НМИЦ кардиологии» Минздрава России; orcid.org/0000-0002-8826-9690 Moscow, Russia

O O Favorova

National Medical Cardiology Research Center of the Ministry of Healthcare of the Russian Federation; Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Faderation

д.м.н., проф., г.н.с. НИИ экспериментальной кардиологии ФГБУ «НМИЦ кардиологии» Минздрава России, зав. каф. молекулярной биологии и медицинской биотехнологии медико-биологического факультета ФГБОУ ВО «РНИМУ им. Н.И. Пирогова»; orcid.org/0000-0002-5271-6698 Moscow, Russia

I E Chazova

National Medical Cardiology Research Center of the Ministry of Healthcare of the Russian Federation

проф., д.м.н., акад. РАН, директор НИИ клинической кардиологии ФГБУ «НМИЦ кардиологии» Минздрава России, руководитель отдела гипертонии Moscow, Russia

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