vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v19i3.2115vsp-2396Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESТечение и исходы семейной средиземноморской лихорадки у пациентов крымско-татарской национальности: предварительные результаты исследования серии случаевThe Clinical Course and Outcomes of Familial Mediterranean Fever in Crimean Tatar Patients: Preliminary Results of Case Serieshttps://orcid.org/0000-0002-2336-6246ЖоговаО. В.ZhogovaOlga V.

Симферополь

Simferopol

https://orcid.org/0000-0001-8814-1948ИвановскийС. В.IvanovskiySergey V.

Симферополь

Simferopol

https://orcid.org/0000-0001-5296-2752ЛагуноваН. В.LagunovaNatalya V.

Симферополь

Simferopol

https://orcid.org/0000-0001-7506-893XТумаковаА. В.TumakovaAnastasia V.

194100, Санкт-Петербург, ул. Литовская, д. 2

Saint Petersburg

https://orcid.org/0000-0002-1180-8086КостикМ. М.KostikMikhail M.

Костик Михаил Михайлович, доктор медицинских наук, профессор кафедры госпитальной педиатрии

194100, Санкт-Петербург, ул. Литовская, д. 2

Saint Petersburg

kost-mikhail@yandex.ruКрымский федеральный университет им. В.И. Вернадского; Республиканская детская клиническая больницаРоссияVernadsky Crimean Federal University; Republican Children's Clinical HospitalRussian FederationКрымский федеральный университет им. В.И. ВернадскогоРоссияVernadsky Crimean Federal UniversityRussian FederationСанкт-Петербургский государственный педиатрический медицинский университетРоссияSt. Petersburg State Pediatric Medical UniversityRussian Federation202007072020193200206Copyright © Жогова О.В., Ивановский С.В., Лагунова Н.В., Тумакова А.В., Костик М.М., 20202020Жогова О.В., Ивановский С.В., Лагунова Н.В., Тумакова А.В., Костик М.М.Zhogova O.V., Ivanovskiy S.V., Lagunova N.V., Tumakova A.V., Kostik M.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/2396

Обоснование. Семейная средиземноморская лихорадка (ССЛ) — самое распространенное моногенное аутовоспалительное заболевание, наиболее часто встречающееся среди турок, евреев, армян, арабов и народностей, постоянно проживающих в бассейне Средиземного моря. До 2016 г. крымских татар не рассматривали как популяцию, в которой встречается ССЛ.Цель исследования. Описать течение и исходы ССЛ у детей крымско-татарской национальности.Методы. Изучали данные историй болезни детей в возрасте до 18 лет с диагнозом ССЛ, верифицированным в соответствии с критериями Eurofever/PRINTO 2019 г. У всех пациентов оценивали характеристики дебюта болезни на момент последнего визита в клинику, а также особенности терапии. Результаты. Медиана возраста постановки диагноза ССЛ составила 9,5 (4; 14) лет, времени от первых клинических проявлений до постановки диагноза — 5,5 (2; 9) лет. Основными клиническими проявлениями ССЛ были: лихорадка и артрит (n = 16), рожеподобные высыпания (n = 9/16), перитонит (n = 8/16), плеврит (n = 1/17). У всех больных был артрит коленного, у 4/16 — тазобедренного сустава. У 12 детей в дебюте ССЛ диагностировали острую респираторную инфекцию, у 2 — прорезывание зубов, двое больных наблюдались с диагнозом «Ювенильный артрит». У 14/16 пациентов обнаружен вариант M694V гена MEFV (в гомозиготном состоянии — у 3), по одному случаю — варианты M680I и V726A. Родители 8/16 пациентов состояли в близком родстве (двоюродные и троюродные родственники). Непереносимость колхицина была обнаружена у 2/16, резистентность — у 4/16. Генно-инженерные биологические препараты (ГИБП) получали 6 пациентов (канакинумаб — 4, тоцилизумаб — 2). Терапия колхицином и/или ГИБП была признана эффективной (уменьшение частоты, продолжительности и степени выраженности приступов, нормализация лабораторных признаков активности болезни) у всех больных. Заключение. Среди больных ССЛ крымско-татарской национальности преобладают гетерозиготные носители патологического варианта M694V гена (81%), в клинической картине доминируют лихорадка и артрит. ГИБП получал каждый третий больной. Терапия ГИБП во всех случаях была эффективной.

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