ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v13i2.1555ppharm-1404Research ArticleДИАГНОСТИКА В ПЕДИАТРИИPEDIATRIC DIAGNOSTICSОпыт успешного лечения канакинумабом пациентки с NLPC4-ассоциированным аутовоспалительным синдромом с энтероколитомExperience of the successful treatment with canakinumab of a patient with NLPC4-associated autoinflammatory syndrome with enterocolitisСлепцоваТ. В.SleptsovaT. V.АлексееваЕ. И.AlexeevaE. I.

доктор медицинских наук, профессор, заведующая ревматологическим отделением НЦЗД, декан педиатрического факультета Первого МГМУ им. И.М. Сеченова Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (499) 134-02-97

alekatya@yandex.ruСавостьяновК. В.Savost’yanovK. V.ПушковА. А.PushkovA. A.БзароваТ. М.BzarovaT. M.ВалиеваС. И.ValievaS. I.ЛомакинаО. Л.LomakinaO. L.ДенисоваР. В.DenisovaR. V.ИсаеваК. Б.IsaevaK. B.ЧистяковаЕ. Г.ChistyakovaE. G.Научный центр здоровья детей, Москва, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian FederationRussian FederationНаучный центр здоровья детей, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Moscow, Russian FederationRussian FederationПервый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская ФедерацияРоссияI.M. Sechenov First Moscow State Medical University, Moscow, Russian FederationRussian Federation201620062016132143148Copyright © Слепцова Т.В., Алексеева Е.И., Савостьянов К.В., Пушков А.А., Бзарова Т.М., Валиева С.И., Ломакина О.Л., Денисова Р.В., Исаева К.Б., Чистякова Е.Г., 20162016Слепцова Т.В., Алексеева Е.И., Савостьянов К.В., Пушков А.А., Бзарова Т.М., Валиева С.И., Ломакина О.Л., Денисова Р.В., Исаева К.Б., Чистякова Е.Г.Sleptsova T.V., Alexeeva E.I., Savost’yanov K.V., Pushkov A.A., Bzarova T.M., Valieva S.I., Lomakina O.L., Denisova R.V., Isaeva K.B., Chistyakova E.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pedpharma.ru/jour/article/view/1404

Представлено наблюдение редкого NLPC4-ассоциированного аутовоспалительного синдрома с энтероколитом и семейной холодовой крапивницей. Диагноз подтвержден молекулярно-генетически: методом секвенирования нового поколения обнаружена ранее не описанная мутация c.928C>T в гетерозиготном состоянии в гене NLRC4. Применение моноклонального антитела к интерлейкину 1 канакинумаба уже через 1 нед лечения обеспечило полное купирование лихорадки, кожного и кишечного синдрома. В дальнейшем зафиксировано полное исчезновение признаков воспаления, повышение качества жизни больной, а также предотвращение развития жизнеугрожающих осложнений. Приведенный клинический пример демонстрирует высокую эффективность канакинумаба у больной с NLRC4-ассоциированным аутовоспалительным синдромом и свидетельствует о перспективности терапевтического применения блокатора интерлейкина 1 у таких пациентов. Нежелательных явлений на фоне терапии канакинумабом не зарегистрировано.

The article shows the observation of rare NLPC4-associated autoinflammatory syndrome with enterocolitis and familial cold urticaria. Diagnosis is confirmed molecularly-genetically: previously not described mutation c.928C>T in the heterozygous state in NLRC4 gene is discovered by a method of the new generation sequencing. The use of a monoclonal antibody to the interleukin 1 canakinumab provided complete relief of fever and skin and intestinal symptoms in just 1 week of treatment. Later the signs of inflammation have disappeared completely; the patient’s quality of life improved and life-threatening complications were prevented. The above example demonstrates the high clinical efficacy of canakinumab in the patient with NLRC4-associated autoinflammatory syndrome and suggests promising therapeutic use of interleukin 1 blockers in such patients. There were no adverse events during canakinumab therapy.

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