Cryopyrin-associated periodic syndrome assess the efficacy and safety of anakinra therapy: a single center experience

A. L. Kozlova; Козлова А. Л.; V. I. Burlakov; Бурлаков В. И.; Z. A. Nesterenko; Нестеренко З. А.; V. O. Bludova; Блудова В. О.; E. V. Raykina; Райкина Е. В.; T. V. Varlamova; Варламова Т. В.; М. А. Kurnikova; Курникова М. А.; A. А. Moiseeva; Моисеева А. А.; S. А. Dibirova; Дибирова С. А.; N. Yu. Kan; Кан Н. Ю.; А. L. Horeva; Хорева А. Л.; А. А. Roppelt; Роппельт А. А.; D. V. Yukhacheva; Юхачева Д. А.; E. V. Deripapa; Дерипапа Е. В.; Yu. А. Rodina; Родина Ю. А.; O. A. Shvets; Швец О. А.; E. A. Deordieva; Деордиева Е. А.; N. B. Kuzmenko; Кузьменко Н. Б.; А. А. Mukhina; Мухина А. А.; G. А. Novichkova; Новичкова Г. А.; A. Yu. Shcherbina; Щербина А. Ю.

doi:10.24287/1726-1708-2022-21-1-88-92

Cryopyrin-associated periodic syndrome assess the efficacy and safety of anakinra therapy: a single center experience

Authors: Kozlova A.L.¹, Burlakov V.I.¹, Nesterenko Z.A.¹, Bludova V.O.¹, Raykina E.V.¹, Varlamova T.V.¹, Kurnikova М.А.¹, Moiseeva A.А.¹, Dibirova S.А.¹, Kan N.Y.¹, Horeva А.L.¹, Roppelt А.А.¹, Yukhacheva D.V.¹, Deripapa E.V.¹, Rodina Y.А.¹, Shvets O.A.¹, Deordieva E.A.¹, Kuzmenko N.B.¹, Mukhina А.А.¹, Novichkova G.А.¹, Shcherbina A.Y.¹
Affiliations:
1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Issue: Vol 21, No 1 (2022)
Pages: 88-92
Section: ORIGINAL ARTICLES
Submitted: 29.03.2022
Accepted: 29.03.2022
Published: 29.03.2022
URL: https://hemoncim.com/jour/article/view/594
DOI: https://doi.org/10.24287/1726-1708-2022-21-1-88-92
ID: 594

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Abstract

The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 20 patients (9 boys, 11 girls) diagnosed with cryopyrin-associated periodic syndrome (CAPS) with an assessment of the efficacy and safety of therapy in 6 patients with an inhibitor of the interleukin-1 receptor – anakinra. The study was approved by the Independent Ethics Committee and the Scientific Council of the D. Rogachev NMRCPHOI. The patients' parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications. The age of CAPS manifestation ranged from 0 to 27.0 months (median – 2 months). The clinical manifestations were dominated by fever, rash, lesions of the central nervous system, musculoskeletal system. During the attack, all 20 patients had an increase acute phase proteins of blood. All patients had heterozygous mutation in the NLRP3 gene, with the highest frequency of localization in exon 3 (17/20). 6/20 patients were initiated on anakinra therapy. All 6 patients who have been treated of anakinra enough to assess the effect of the treatment, drastic improvement of the condition was noted, but only in 5/6 patients achieved full remission.