Научно-практическая ревматология (Sep 2021)

Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data)

  • E. V. Antsiferova,
  • T. V. Cherkashina,
  • N. G. Wolf,
  • I. Yu. Naumenko,
  • E. A. Anikina,
  • N. G. Kiseleva,
  • N. Yu. Makarevskaya,
  • T. E. Taranushenko,
  • L. N. Antsiferova,
  • E. Yu. Emelyanchik

DOI
https://doi.org/10.47360/1995-4484-2021-455-462
Journal volume & issue
Vol. 59, no. 4

Abstract

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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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