nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное общество10.28996/1680-4422-2017-4-455-465nid-408Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESСиндром мнимого избытка минералокортикоидов: трудности диагностики и лечения. Литературный обзор и клиническое наблюдениеApparent mineralocorticoid excess syndrome: difficulties of diagnostics and treatment. Review and case reportПапижС. В.PapizhS. V.papijsveta@mail.ruПриходинаЛ. С.PrikhodinaL. S.noemail@neicon.ruНаучно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева ФГБОУ ВО "РНИМУ им. Н.И. Пирогова" Министерства здравоохранения Российской ФедерацииРоссияClinical Institute of Pediatrics named after U.E. Veltishev, Pirogov Russian National Research Medical UniversityRussian Federation201716082024194455465Copyright © Папиж С.В., Приходина Л.С., 20242024Папиж С.В., Приходина Л.С.Papizh S.V., Prikhodina L.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephro.ru/jour/article/view/408

Синдром мнимого избытка минералокортикоидов - аутосомно-рецессивная гипорениновая артериальная гипертензия, ассоциированная с низким уровнем альдостерона крови, гипокалиемией, метаболическим алкалозом, гиперкальциурией и нефрокальцинозом. Заболевание относится к группе моногенных форм артериальной гипертензии, обусловлено мутацией в гене HSD11B2, кодирующего фермент 11-β-HSD2, который участвует в метаболизме кортизола. В данной статье мы приводим клиническое наблюдение за ребенком с классическими проявлениями синдрома мнимого избытка минералокортикоидов. Дифференциально-диагностический поиск требовал исключения широкого круга заболеваний, протекающих с клинической симптоматикой, наблюдавшейся у нашего пациента. Учитывая сочетание артериальной гипертензии с низкой активностью ренина крови, исключались заболевания из группы моногенных форм артериальной гипертензии, для которых патогномонично наличие гипоренинемии. Диагноз подтвержден молекулярно-генетически - выявлена ранее неописанная гомозиготная мутация c.991G>A (p.A331T) в экзоне 5 гена HSD11B2. Проводимая поэтапно гипотензивная терапия с применением монотерапии и комбинаций блокаторов кальциевых каналов, блокаторов рецепторов ангиотензина II, тиазидных диуретиков, а также использование антагонистов минералокортикоидных рецепторов, калий-сберегающих диуретиков не привели к коррекции артериальной гипертензии у ребенка. Только назначение низких доз стероидов - дексаметазона, действие которого направлено на снижение эндогенной продукции кортизола, позволило добиться стойкого гипотензивного эффекта, нормализации электролитного и кислотно-основного состояния крови у пациента.

Аpparent mineralocorticoid excess syndrome (AMEs) is autosomal recessive severe hypertension associated with low serum renin activity and aldosterone level, hypokalemia, metabolic alkalosis, hypercalciuria and nephrocalcinosis. This disease refers to the group of monogenic forms of hypertension and is associated with mutations in the HSD11B2 gene, encoding the type 2 11β-hydroxysteroid dehydrogenase that participates in cortisol metabolism. Here, we present a clinical case of a child with typical AMEs characteristics. Sequencing of all exons of the HSD11B2 gene responsible for AMEs revealed novel homozygous mutation c.991G>A (p.A331T) in exon 5. Stage-by-stage hypotensive therapy with monotherapy and combinations of calcium channel blockers, angiotensin II receptor blockers, thiazide diuretics, and the use of antagonists of mineralocorticoid receptors, potassium-sparing diuretics was insufficient for the correction of hypertension in the child. Only the appointment of low doses of steroids - dexamethasone, aimed to reducing the endogenous production of cortisol, made it possible to achieve a persistent hypotensive effect and to normalize the electrolyte and acid-base equilibrium in the patient’s blood.

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The authors declare that there are no conflicts of interest present.