Open AccessClinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data)
Author(s) -
Е. В. Анциферова,
T.V. Cherkashina,
N Volf,
И Ю Науменко,
E. A. Anikina,
Н.Г. Киселева,
Н Ю Макаревская,
Т. Е. Таранушенко,
Л. Н. Анциферова,
Е. Ю. Емельянчик
Publication year - 2021
Publication title -
naučno-praktičeskaâ revmatologiâ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.137
H-Index - 9
eISSN - 1995-4492
pISSN - 1995-4484
DOI - 10.47360/1995-4484-2021-455-462
Subject(s) - canakinumab , mutation , medicine , disease , arthritis , genetics , pediatrics , gene , immunology , biology , anakinra
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.