rspНаучно-практическая ревматологияRheumatology Science and Practice1995-44841995-4492IMA-PRESS, LLC10.14412/1995-4484-2019-125-132rsp-2694Research ArticleПЕРЕДОВАЯFRONTIERSМоногенные аутовоспалительные заболевания у детей и взрослых: что необходимо знать ревматологуMonogenic auto-inflammatory diseases in children and adults: what a rheumatologist should knowСалугинаС. О.SaluginaS. O.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow, 115552

pafon1@yandex.ruФедоровЕ. С.FedorovE. S.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow, 115552

АгафоноваЕ. М.AgafonovaE. M.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow, 115552

ФГБНУ «Научно-исследовательский институт ревматологии им. В.А. Насоновой»РоссияV.A. Nasonova Research Institute of RheumatologyRussian Federation201914052019572125132Copyright © Салугина С.О., Федоров Е.С., Агафонова Е.М., 20192019Салугина С.О., Федоров Е.С., Агафонова Е.М.Salugina S.O., Fedorov E.S., Agafonova E.M.This work is licensed under a Creative Commons Attribution 4.0 License.https://rsp.mediar-press.net/rsp/article/view/2694

В статье представлены сведения о современном состоянии проблемы аутовоспалительных заболеваний (АВЗ) в ревматологии, отражены клинико-демографические, лабораторные и молекулярно-генетические характеристики основных моногенных АВЗ (мАВЗ), наиболее часто встречающихся в реальной клинической практике. Изложены подходы к диагностике и дифференциальной диагностике этих состояний. Представлены варианты классификации и диагностические критерии наиболее изученных мАВЗ. Показаны принципы лечения с акцентом на применение таргетной терапии ингибиторами интерлейкина 1 (ИЛ1). На клинических примерах продемонстрированы варианты поздней диагностики мАВЗ у взрослых пациентов, заболевших в детском возрасте, с отражением различных вариантов мультиорганного поражения, а также показана эффективность терапии ингибитором ИЛ 1β канакинумабом даже в подобных случаях с возможностью значительного регресса симптоматики и восстановлением удовлетворительного качества жизни.

The article presents information on the current state of the problem of autoinflammatory diseases (AID) in rheumatology, reflects the clinical and demographic, laboratory and molecular genetic characteristics of the main monogenic AID (mAID), the most common in real clinical practice. Approaches to the diagnosis and differential diagnosis of these conditions are presented. The variants of classification and diagnostic criteria of the most studied mAID are discussed. The principles of treatment with an emphasis on the use of targeted therapy with interleukin 1 (IL1) inhibitors are shown. The clinical examples demonstrate the variants of late diagnosis of the mAID in adult patients with the disease onset in childhood. Different variants of multi-organ damage are considered. Effectiveness of therapy with IL1β inhibitor kanakinumab is demonstrated. Even in such cases it provided the possibility of significant symptoms regression and restoration of a satisfactory quality of life.

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