rspНаучно-практическая ревматологияRheumatology Science and Practice1995-44841995-4492IMA-PRESS, LLC10.47360/1995-4484-2021-455-462rsp-3064Research ArticleПЕДИАТРИЧЕСКАЯ РЕВМАТОЛОГИЯPEDIATRIC RHEUMATOLOGYКлинико-генетическая характеристика и результаты таргетной терапии у детей с TRAPS (по результатам клинического наблюдения)Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data)https://orcid.org/0000-0002-5179-3122АнцифероваЕ. В.AntsiferovaE. V.

660022, Российская Федерация, Красноярск, ул. Партизана Железняка, д. 1

660074, Российская Федерация, Красноярск, ул. Академика Киренского, д. 2а

60022, Russian Federation, Krasnoyarsk, Partisan Zheleznyak str., 1

660074, Russian Federation Krasnoyarsk, Academician Kirensky str., 2a

https://orcid.org/0000-0003-1425-6616ЧеркашинаТ. В.CherkashinaT. V.

660074, Российская Федерация, Красноярск, ул. Академика Киренского, д. 2а

660074, Russian Federation Krasnoyarsk, Academician Kirensky str., 2a

https://orcid.org/0000-0003-0143-1155ВольфН. Г.WolfN. G.

660074, Российская Федерация, Красноярск, ул. Академика Киренского, д. 2а

660074, Russian Federation Krasnoyarsk, Academician Kirensky str., 2a

https://orcid.org/0000-0003-2975-6648НауменкоИ. Ю.NaumenkoI. Yu.

660074, Российская Федерация, Красноярск, ул. Академика Киренского, д. 2а

660074, Russian Federation Krasnoyarsk, Academician Kirensky str., 2a

https://orcid.org/0000-0002-9456-4434АникинаЕ. А.AnikinaE. A.

660074, Российская Федерация, Красноярск, ул. Академика Киренского, д. 2а

660074, Russian Federation Krasnoyarsk, Academician Kirensky str., 2a

https://orcid.org/0000-0001-6425-5086КиселеваН. Г.KiselevaN. G.

660022, Российская Федерация, Красноярск, ул. Партизана Железняка, д. 1

660074, Российская Федерация, Красноярск, ул. Академика Киренского, д. 2а

60022, Russian Federation, Krasnoyarsk, Partisan Zheleznyak str., 1

660074, Russian Federation Krasnoyarsk, Academician Kirensky str., 2a

https://orcid.org/0000-0002-4816-3314МакаревскаяН. Ю.MakarevskayaN. Yu.

660074, Российская Федерация, Красноярск, ул. Академика Киренского, д. 2а

660074, Russian Federation Krasnoyarsk, Academician Kirensky str., 2a

https://orcid.org/0000-0003-2500-8001ТаранушенкоТ. Е.TaranushenkoT. E.

660022, Российская Федерация, Красноярск, ул. Партизана Железняка, д. 1

660074, Российская Федерация, Красноярск, ул. Академика Киренского, д. 2а

60022, Russian Federation, Krasnoyarsk, Partisan Zheleznyak str., 1

https://orcid.org/0000-0001-8320-5631АнцифероваЛ. Н.AntsiferovaL. N.

660074, Российская Федерация, Красноярск, ул. Академика Киренского, д. 2а

660074, Russian Federation Krasnoyarsk, Academician Kirensky str., 2a

https://orcid.org/0000-0001-5013-2480ЕмельянчикЕ. Ю.EmelyanchikE. Yu.

660022, Российская Федерация, Красноярск, ул. Партизана Железняка, д. 1

60022, Russian Federation, Krasnoyarsk, Partisan Zheleznyak str., 1

ФГБОУ ВО «Красноярский государственный медицинский университет им. профессора В.Ф. Войно-Ясенецкого» Минздрава России; КГБУЗ «Красноярский краевой клинический центр охраны материнства и детства»РоссияKrasnoyarsk State Medical University named after professor Voino-Yasenetsky; Krasnoyarsk Regional Clinical Center for Maternity and Childhood ProtectionRussian FederationКГБУЗ «Красноярский краевой клинический центр охраны материнства и детства»РоссияKrasnoyarsk Regional Clinical Center for Maternity and Childhood ProtectionRussian FederationФГБОУ ВО «Красноярский государственный медицинский университет им. профессора В.Ф. Войно-Ясенецкого» Минздрава России; КГБУЗ «Красноярский краевой клинический центр охраны материнства и детства»РоссияKrasnoyarsk State Medical University named after professor Voino-YasenetskyRussian FederationФГБОУ ВО «Красноярский государственный медицинский университет им. профессора В.Ф. Войно-Ясенецкого» Минздрава РоссииРоссияKrasnoyarsk State Medical University named after professor Voino-YasenetskyRussian Federation202105092021594455–462Copyright © Анциферова Е.В., Черкашина Т.В., Вольф Н.Г., Науменко И.Ю., Аникина Е.А., Киселева Н.Г., Макаревская Н.Ю., Таранушенко Т.Е., Анциферова Л.Н., Емельянчик Е.Ю., 20212021Анциферова Е.В., Черкашина Т.В., Вольф Н.Г., Науменко И.Ю., Аникина Е.А., Киселева Н.Г., Макаревская Н.Ю., Таранушенко Т.Е., Анциферова Л.Н., Емельянчик Е.Ю.Antsiferova E.V., Cherkashina T.V., Wolf N.G., Naumenko I.Y., Anikina E.A., Kiseleva N.G., Makarevskaya N.Y., Taranushenko T.E., Antsiferova L.N., Emelyanchik E.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://rsp.mediar-press.net/rsp/article/view/3064

Сложность диагностики и прогнозирования течения периодического синдрома, ассоциированного с рецептором фактора некроза опухоли, определяет важность изучения зависимости клинических проявлений от варианта генетической мутации, наличия генов-модификаторов. Наблюдались 5 детей с верифицированным диагнозом периодического синдрома, ассоциированного с рецептором фактора некроза опухоли. Установлено, что дебют заболевания в большинстве случаев расценивается как ювенильный артрит с системным началом. Генетические варианты с заменой цистеиновых остатков ассоциированы с ранним началом и агрессивным течением, мутация c.362G>A p.R121Q – с эрозивным поражением осевого скелета. Описан случай благоприятного течения периодического синдрома, ассоциированного с рецептором фактора некроза опухоли у сибсов с впервые выявленной мутацией. Отмечалось развитие ургентных осложнений TRAPS при отмене базисной терапии канакинумабом.

The complexity of diagnosing and predicting the course of TNF-receptor-associated periodic syndrome TRAPS determines the importance of studying the dependence of clinical manifestations on the variant of genetic mutation and the presence of modifier genes. We observed 5 children with an identified diagnosis of TRAPS. It was established that the disease onset in most cases is defined as a juvenile arthritis with systemic onset. Genetic variants with the replacement of cysteine residues are associated with an early debut and an aggressive course, the c.362G> A p.R121Q mutation is associated with an erosive damage to the spine. The case of a favorable course of TRAPS in siblings with a newly detected mutation is described. The development of urgent complications of TRAPS was revealed when basic therapy with canakinumab was canceled.

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