关键词: arterial hypertension chimeric gene family hyperaldosteronism type I glucocorticoid therapy

Mesh : Adrenalectomy / methods Aldosterone / metabolism Antihypertensive Agents / administration & dosage classification Blood Pressure / drug effects physiology Corticosterone / metabolism Cytochrome P-450 CYP11B2 / genetics Glucocorticoids / administration & dosage Humans Hyperaldosteronism / diagnosis genetics physiopathology therapy Hypertension / diagnosis etiology therapy Long-Term Care / methods Male Middle Aged Pedigree Steroid 11-beta-Hydroxylase / genetics Treatment Outcome

来  源:   DOI:10.26442/terarkh2018909115-122

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.
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