Syndrome of imaginary excess of mineralocorticoids: a clinical case
N. F. Nuralieva,
A. A. Lavrenyuk,
M. Zh. Adjiasanova,
M. Yu. Yukina,
I. S. Chugunov,
N. M. Platonova,
E. A. Troshina https://doi.org/10.62751/2713-0177-2024-5-1-10
Abstract
The syndrome of apparent mineralocorticoid excess (AME) is a rare genetic disease characterized by juvenile hypertension, hypokalemia, suppression of renin and aldosterone. AME syndrome is caused by a mutation in the HSD11B2 gene, which encodes 11ß-hydroxysteroid dehydrogenase type 2, that converts cortisol into cortisone.
The purpose of the article is to describe a clinical case of genetically confirmed (mutation C.911A>G of the HSD11B2 gene) AME syndrome. The disease manifested in the first years of life; the patient was prescribed mineralocorticoid receptor antagonists, potassium preparations, potassium-sparing diuretics, and other antihypertensive therapy. Due to the absence of normotonia and normokalemia, dexamethasone has been prescribed since the age of 12. Due to uncontrolled arterial hypertension and hypokalemia, complications developed (medullary nephrocalcinosis, myocardial remodeling), and prolonged dexamethasone intake led to a slowdown in puberty and a decrease in bone mineral density.
About the Authors
N. F. Nuralieva
Endocrinology Research Centre
Russian Federation
Russian Federation
Nurana H. Nuralieva , Researcher at the Department of Treatment of patients with ito-a prominent resident, adrenal glands and obesity
Moscow
A. A. Lavrenyuk
Endocrinology Research Centre
Russian Federation
Russian Federation
Anastasia A. Lavrenyuk, resident
Moscow
M. Zh. Adjiasanova
Endocrinology Research Centre
Russian Federation
Russian Federation
Mavile Zh. Adjiasanova , resident
Moscow
M. Yu. Yukina
Endocrinology Research Centre
Russian Federation
Russian Federation
Marina Yu. Yukina, Can. Sci. (Med.), Head of the Department of Therapy of Thyroid, Adrenal and Obesity Diseases
Moscow
I. S. Chugunov
Endocrinology Research Centre
Russian Federation
Russian Federation
Igor S. Chugunov, Can. Sci. (Med.), Head of the Pediatric Department of Tumors of the Endocrine System
Moscow
N. M. Platonova
Endocrinology Research Centre
Russian Federation
Russian Federation
Nadezhda M. Platonova, Doc. Sci. (Med.), Head of the Department of Therapeutic Endocrinology, Endocrinology Research Centre
Moscow
E. A. Troshina
Endocrinology Research Centre
Russian Federation
Russian Federation
Ekaterina A. Troshina , Doc. Sci. (Med.), Professor, Corresponding Member of the Russian Academy of Sciences, Director of the Institute of Clinical Endocrinology
Moscow
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Review
For citations:
Nuralieva N.F., Lavrenyuk A.A., Adjiasanova M.Zh., Yukina M.Yu., Chugunov I.S., Platonova N.M., Troshina E.A. Syndrome of imaginary excess of mineralocorticoids: a clinical case. FOCUS. Endocrinology. 2024;5(1):74-80. (In Russ.) https://doi.org/10.62751/2713-0177-2024-5-1-10
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