rspНаучно-практическая ревматологияRheumatology Science and Practice1995-44841995-4492IMA-PRESS, LLC10.47360/1995-4484-2021-326-334rsp-3048Research ArticleПЕДИАТРИЧЕСКАЯ РЕВМАТОЛОГИЯPEDIATRIC RHEUMATOLOGYСиндром дефицита мевалонаткиназы: опыт одного центраMevalonate kinase deficiency syndrome: Single center experiencehttps://orcid.org/0000-0002-2869-6535КозловаА. Л.KozlovaA. L.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

annamax-99@mail.ruhttps://orcid.org/0000-0003-0960-3089БлудоваВ. О.BludovaV. O.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0003-1267-9957БурлаковВ. И.BurlakovV. I.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0002-7634-2053РайкинаЕ. В.RaykinaE. V.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0002-0501-8686ВарламоваТ. В.VarlamovaT. V.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0003-0900-6874КурниковаМ. А.KurnikovaМ. А.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0003-1918-0841РемизовА. Н.RemizovА. N.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0001-7317-7104ТерещенкоГ. В.TereshchenkoG. V.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0002-6134-3811МоисееваА. А.MoiseevaА. А.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0002-0596-6088ДибироваС. А.DibirovaS. А.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0002-7684-9188ХореваА. Л.KhorevaА. L.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0001-5132-1267РоппельтА. А.RoppeltА. А.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0001-9857-4456РодинаЮ. А.RodinaYu. А.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0002-1669-8621КузьменкоН. Б.KuzmenkoN. B.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0002-3305-1694МухинаА. А.MukhinaА. А.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0002-5404-6122КалашниковаЕ. И.КаlashnikovaЕ. I.

614066, Пермь, ул. Баумана, 22

614066, Perm, Baumana str, 22

https://orcid.org/0000-0002-7102-3571ИгишеваЛ. Н.IgishevaL. N.

650029, Кемерово, ул. Ворошилова, 22а

650029, Kemerovo, Voroshilova str, 22A

https://orcid.org/0000-0003-2108-5798МартыноваН. В.MartynovaN. V.

392024, Тамбов, ул. Рылеева, 80

392024, Tambov, Ryleeva str, 80

https://orcid.org/0000-0002-2336-6246ЖоговаО. В.ZhogovaО. V.

295034, Симферополь, ул. Титова, 71

295034, Simferopol, Titova str, 71

https://orcid.org/0000-0002-4514-8469ЗиминС. Б.ZiminS. B.

123317, Москва, Шмитовский проезд, 29

123317, Moscow, Shmitovsky road, 29

https://orcid.org/0000-0002-2088-4515БарабановаО. В.BarabanovaО. V.

123317, Москва, Шмитовский проезд, 29

123317, Moscow, Shmitovsky road, 29

https://orcid.org/0000-0001-9328-0678КотоваЮ. В.KotovaYu. V.

141009, Московская область, Мытищи, ул. Коминтерна, 24а, стр. 1

141009, Moscow Region, Mytishchi, Kominterna str, 24A, build. 1

https://orcid.org/0000-0002-2322-5734НовичковаГ. А.NovichkovaG. А.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

https://orcid.org/0000-0002-3113-4939ЩербинаА. Ю.ShcherbinaА. Yu.

117997, Москва, ул. Саморы Машела, 1

117997, Moscow, Samory Mashela str., 1

ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии имени Дмитрия Рогачева» Минздрава РоссииРоссияDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and ImmunologyRussian FederationГБУЗ ПК «Краевая детская клиническая больница»РоссияPerm Region Children’s Clinical HospitalRussian FederationФГБОУ ВО «Кемеровский государственный медицинский университет» Минздрава РоссииРоссияKemerovo State Medical UniversityRussian FederationГБУЗ «Тамбовская областная детская больница»РоссияTambov Regional Children’s HospitalRussian FederationГБУЗ РК «Республиканская детская клиническая больница»РоссияKrim Republican Children’s Clinical HospitalRussian FederationГБУЗ «Детская городская клиническая больница № 9 им. Г.Н. Сперанского Департамента здравоохранения Москвы»РоссияChildren’s City Clinical Hospital N 9 named after G.N. SperanskyRussian FederationГБУЗ МО «Детский клинический многопрофильный центр Московской области»РоссияChildren’s Clinical Multidisciplinary Hospital of the Moscow RegionRussian Federation202114072021593326334Copyright © Козлова А.Л., Блудова В.О., Бурлаков В.И., Райкина Е.В., Варламова Т.В., Курникова М.А., Ремизов А.Н., Терещенко Г.В., Моисеева А.А., Дибирова С.А., Хорева А.Л., Роппельт А.А., Родина Ю.А., Кузьменко Н.Б., Мухина А.А., Калашникова Е.И., Игишева Л.Н., Мартынова Н.В., Жогова О.В., Зимин С.Б., Барабанова О.В., Котова Ю.В., Новичкова Г.А., Щербина А.Ю., 20212021Козлова А.Л., Блудова В.О., Бурлаков В.И., Райкина Е.В., Варламова Т.В., Курникова М.А., Ремизов А.Н., Терещенко Г.В., Моисеева А.А., Дибирова С.А., Хорева А.Л., Роппельт А.А., Родина Ю.А., Кузьменко Н.Б., Мухина А.А., Калашникова Е.И., Игишева Л.Н., Мартынова Н.В., Жогова О.В., Зимин С.Б., Барабанова О.В., Котова Ю.В., Новичкова Г.А., Щербина А.Ю.Kozlova A.L., Bludova V.O., Burlakov V.I., Raykina E.V., Varlamova T.V., Kurnikova М.А., Remizov А.N., Tereshchenko G.V., Moiseeva А.А., Dibirova S.А., Khoreva А.L., Roppelt А.А., Rodina Y.А., Kuzmenko N.B., Mukhina А.А., Каlashnikova Е.I., Igisheva L.N., Martynova N.V., Zhogova О.V., Zimin S.B., Barabanova О.V., Kotova Y.V., Novichkova G.А., Shcherbina А.Y.This work is licensed under a Creative Commons Attribution 4.0 License.https://rsp.mediar-press.net/rsp/article/view/3048

Целью данного исследования явилось проведение анализа клинических, лабораторных и молекулярно-генетических данных 26 пациентов (15 мальчиков, 11 девочек) с диагнозом синдром дефицита мевалонаткиназы (MKD, mevalonate kinase deficiency).

Материал и методы

Материал и методы. Медиана возраста манифестации MKD составляла 1,5 мес. Клинические проявления и тяжесть течения заболевания были крайне разнообразны: от изменений, напоминавших синдром Маршалла, до тяжелых системных нарушений с дыхательной недостаточностью, гепатоспленомегалией и панцитопенией.

Результаты

Результаты. Во всех случаях у пациентов выявлены гомозиготные/компаунд-гетерозиготные мутации гена MVK, включая 10 впервые описанных вариантов. У всех 20 пациентов, получавших терапию ингибитором ИЛ-1 в течение периода, достаточного для оценки эффективности, можно констатировать стабилизацию состояния, но только у 17 из них – полную лекарственную ремиссию. 

The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).

Subjects and methods

Subjects and methods. The age of MKD manifestation ranged from 0 to 30.0 months (M – 1.5 months). Clinical manifestations and their severity were extremely diverse: from symptoms resembling Marshall’s syndrome to severe systemic manifestations with respiratory failure, hepatosplenomegaly and pancytopenia.

Results/Conclusion

Results/Conclusion. All patients had homozygous/compound-heterozygous mutations in the MVK gene, including 10 newly described variants. In all 20 patients, who have been treated with IL-1 inhibitors long enough to assess the effect of the treatment, drastic improvement of the condition was noted, but only in 17/20 patients achieved full remission.

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