vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v13i2.973vsp-207Research ArticleНЕПРЕРЫВНОЕ ПРОФЕССИОНАЛЬНОЕ ОБРАЗОВАНИЕPROFESSIONAL DEVELOPMENTАУТОВОСПАЛИТЕЛЬНЫЕ ЗАБОЛЕВАНИЯ У ДЕТЕЙAUTOINFLAMMATORY DISEASES IN CHILDREN(The Lecture from 18th of September 2013, Conference «Topical Problems of Diagnostics and Treatment of Juvenile Rheumatoid Arthritis» (18–20 of September, 2013, St. Petersburg))ГатторноМ.GattornoM.

Marco Gattorno, MD, 2nd Division of Pediatrics EULAR Centre of Excellence in Rheumatology 2008–2018 «G.Gaslini» Scientific Institute

marcogattorno@ospedale-gaslini.ge.itИнститут им. Г. Гаслини, ГенуяИталияInstituto G. Gaslini, GenoaItaly201401042014132Вопросы современной педиатрии5564Copyright © Гатторно М., 20142014Гатторно М.Gattorno M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/207

В статье изложены данные, касающиеся клинических проявлений, диагностики и лечения наследственных аутовоспалительных синдромов, таких как криопирин-ассоциированный периодический синдром (CAPS), семейная средиземноморская лихорадка (FMF), периодический синдром, ассоциированный с рецептором фактора некроза опухоли (TRAPS-синдром), синдром гипериммуноглобулинемии D (HIDS), стерильный пиогенный артрит в сочетании с гангренозной пиодермией (PAPA-синдром), ювенильный саркоидоз (Блау-синдром). Данные заболевания являются генетически-детерминированными, с аутосомно-доминатным и аутосомно-рецессивным типом наследования. Все их объединяют общие черты патогенеза, такие как спонтанная активация и поддержание неконтролируемого воспаления в системе врожденного иммунитета, отсутствие аутоантиел и антиген-специфических T лимфоцитов, гиперпродукция интерлейкина 1 и хороший эффект от применения лекарственных препаратов, блокирующих интерлейкин 1. Представлены данные о патогенезе, объясняющие выбор лекарственного препарата, а также алгоритмы диагностики заболеваний. Подробно описаны различия клинических фенотипов, составляющих CAPS: семейная холодовая крапивница (FCAS), синдром Макла–Вэлса и синдром CINCA / NOMID. Представлены общие данные о периодических лихорадках и их дифференциальной диагностике. Также приведена информация о международном проекте EuroFever, предоставляющем широкие возможности для международного сотрудничества в сфере периодических лихорадок.

Data about clinical signs, diagnostics and treatment of hereditary autoinflammatory syndromes, e.g. cryopyrin-associated periodic syndrome (CAPS), familial Mediterranean fever (FMF), TNF-receptor associated periodic syndrome (TRAPS-syndrome), hyperimmunoglobulinemia D syndrome (HIDS), Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne (PAPA) syndrome, juvenile sarcoidosis (Blau-syndrome) are shown in the article. These diseases are typically genetic disease with autosomal dominant and autosomal recessive type of inheritance. All diseases have common pathogenic features, such as spontaneous activation of innate immunity, maintaining of uncontrolled inflammation, absence of auto-antibodies and antigen-specific T-lymphocytes, over-secretion of interleukin-1 and good response to anti-interleukin-1 treatment. In this article you can see the basis of pathogenesis of the diseases, which determine the choice of treatment modalities and diagnostic algorhythms. Differences between clinical phenotypes of cryopyrin-associated periodic syndrome, such as familial cold urticaria (FCAS), Muckle-Wells syndrome and CINCA / NOMID syndrome are described thoroughly. You can find information about the whole group of periodic fevers and their differentiation. Data about international project «EuroFever» which can facilitate international collaboration in the fields of periodic fever are available.

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